메뉴 건너뛰기




Volumn 29, Issue 4, 2011, Pages 412-419

Ultrastructure and molecular pathogenesis of epidermolysis bullosa

Author keywords

[No Author keywords available]

Indexed keywords

CELL PROTEIN; COLLAGEN TYPE 7; CYTOKERATIN 4; CYTOKERATIN 5; FERMITIN FAMILY HOMOLOG 1 PROTEIN; KALININ; PLECTIN; UNCLASSIFIED DRUG;

EID: 79958859497     PISSN: 0738081X     EISSN: 18791131     Source Type: Journal    
DOI: 10.1016/j.clindermatol.2011.01.010     Document Type: Article
Times cited : (41)

References (54)
  • 1
    • 43449084027 scopus 로고    scopus 로고
    • The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB
    • Fine J., Eady R., Bauer E., et al. The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. J Am Acad Dermatol 2008, 58:931-950.
    • (2008) J Am Acad Dermatol , vol.58 , pp. 931-950
    • Fine, J.1    Eady, R.2    Bauer, E.3
  • 2
    • 13544263216 scopus 로고    scopus 로고
    • Progress in epidermolysis bullosa: from eponyms to molecular genetic classification
    • Uitto J., Richard G. Progress in epidermolysis bullosa: from eponyms to molecular genetic classification. Clin Dermatol 2005, 23:33-40.
    • (2005) Clin Dermatol , vol.23 , pp. 33-40
    • Uitto, J.1    Richard, G.2
  • 3
    • 0037406396 scopus 로고    scopus 로고
    • Epidermal basement membrane zone components: ultrastructural distribution and molecular interactions
    • McMillan J., Akiyama M., Shimizu H. Epidermal basement membrane zone components: ultrastructural distribution and molecular interactions. J Dermatol Sci 2003, 31:169-177.
    • (2003) J Dermatol Sci , vol.31 , pp. 169-177
    • McMillan, J.1    Akiyama, M.2    Shimizu, H.3
  • 5
    • 0019460693 scopus 로고
    • Immunofluorescence mapping of antigenic determinants within the dermal-epidermal junction in the mechanobullous diseases
    • Hintner H., Stingl G., Schuler G., et al. Immunofluorescence mapping of antigenic determinants within the dermal-epidermal junction in the mechanobullous diseases. J Invest Dermatol 1981, 76:113-118.
    • (1981) J Invest Dermatol , vol.76 , pp. 113-118
    • Hintner, H.1    Stingl, G.2    Schuler, G.3
  • 6
    • 0031930179 scopus 로고    scopus 로고
    • Hemidesmosomes show abnormal association with the keratin filament network in junctional forms of epidermolysis bullosa
    • McMillan J., McGrath J., Tidman M., et al. Hemidesmosomes show abnormal association with the keratin filament network in junctional forms of epidermolysis bullosa. J Invest Dermatol 1998, 110:132-137.
    • (1998) J Invest Dermatol , vol.110 , pp. 132-137
    • McMillan, J.1    McGrath, J.2    Tidman, M.3
  • 7
    • 30044434259 scopus 로고    scopus 로고
    • Colocalization of multiple laminin isoforms predominantly beneath hemidesmosomes in the upper lamina densa of the epidermal basement membrane
    • McMillan J., Akiyama M., Nakamura H., et al. Colocalization of multiple laminin isoforms predominantly beneath hemidesmosomes in the upper lamina densa of the epidermal basement membrane. J Histochem Cytochem 2006, 54:109-118.
    • (2006) J Histochem Cytochem , vol.54 , pp. 109-118
    • McMillan, J.1    Akiyama, M.2    Nakamura, H.3
  • 8
    • 79958797177 scopus 로고    scopus 로고
    • Epidermolysis bullosa: diagnosis and therapy
    • McMillan J., Long H., Akiyama M., et al. Epidermolysis bullosa: diagnosis and therapy. Wound Pract Res 2009, 17:62-70.
    • (2009) Wound Pract Res , vol.17 , pp. 62-70
    • McMillan, J.1    Long, H.2    Akiyama, M.3
  • 9
    • 0031735711 scopus 로고    scopus 로고
    • New insights into the immunoultrastructural organization of cutaneous basement membrane zone molecules
    • Shimizu H. New insights into the immunoultrastructural organization of cutaneous basement membrane zone molecules. Exp Dermatol 1998, 7:303-313.
    • (1998) Exp Dermatol , vol.7 , pp. 303-313
    • Shimizu, H.1
  • 10
    • 0021721975 scopus 로고
    • Ultrastructural morphometry of normal human dermal-epidermal junction. The influence of age, sex, and body region on laminar and nonlaminar components
    • Tidman M., Eady R. Ultrastructural morphometry of normal human dermal-epidermal junction. The influence of age, sex, and body region on laminar and nonlaminar components. J Invest Dermatol 1984, 83:448-453.
    • (1984) J Invest Dermatol , vol.83 , pp. 448-453
    • Tidman, M.1    Eady, R.2
  • 12
    • 0026877993 scopus 로고
    • The molecular biology of desmosomes and hemidesmosomes: "what's in a name"?
    • Legan P., Collins J., Garrod D. The molecular biology of desmosomes and hemidesmosomes: "what's in a name"?. Bioessays 1992, 14:385-393.
    • (1992) Bioessays , vol.14 , pp. 385-393
    • Legan, P.1    Collins, J.2    Garrod, D.3
  • 13
    • 0030051141 scopus 로고    scopus 로고
    • Hemidesmosome ontogeny in digit skin of the human fetus
    • McMillan J., Eady R. Hemidesmosome ontogeny in digit skin of the human fetus. Arch Dermatol Res 1996, 288:91-97.
    • (1996) Arch Dermatol Res , vol.288 , pp. 91-97
    • McMillan, J.1    Eady, R.2
  • 14
    • 0034805288 scopus 로고    scopus 로고
    • Molecular organization of the cutaneous basement membrane zone
    • Ghohestani R., Li K., Rousselle P., et al. Molecular organization of the cutaneous basement membrane zone. Clin Dermatol 2001, 19:551-562.
    • (2001) Clin Dermatol , vol.19 , pp. 551-562
    • Ghohestani, R.1    Li, K.2    Rousselle, P.3
  • 15
    • 0031663054 scopus 로고    scopus 로고
    • Role of plectin in cytoskeleton organization and dynamics
    • Wiche G. Role of plectin in cytoskeleton organization and dynamics. J Cell Sci 1998, 111:2477-2486.
    • (1998) J Cell Sci , vol.111 , pp. 2477-2486
    • Wiche, G.1
  • 16
    • 0030598838 scopus 로고    scopus 로고
    • An essential cytoskeletal linker protein connecting actin microfilaments to intermediate filaments
    • Yang Y., Dowling J., Yu Q., et al. An essential cytoskeletal linker protein connecting actin microfilaments to intermediate filaments. Cell 1996, 86:655-665.
    • (1996) Cell , vol.86 , pp. 655-665
    • Yang, Y.1    Dowling, J.2    Yu, Q.3
  • 17
    • 77952431203 scopus 로고    scopus 로고
    • A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex
    • Groves R., Liu L., Dopping-Hepenstal P., et al. A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex. J Invest Dermatol 2010, 130:1551-1557.
    • (2010) J Invest Dermatol , vol.130 , pp. 1551-1557
    • Groves, R.1    Liu, L.2    Dopping-Hepenstal, P.3
  • 18
    • 0028176073 scopus 로고
    • Expression of the integrin alpha 6 beta 4 in peripheral nerves: localization in Schwann and perineural cells and different variants of the beta 4 subunit
    • Niessen C., Cremona O., Daams H., et al. Expression of the integrin alpha 6 beta 4 in peripheral nerves: localization in Schwann and perineural cells and different variants of the beta 4 subunit. J Cell Sci 1994, 107:543-552.
    • (1994) J Cell Sci , vol.107 , pp. 543-552
    • Niessen, C.1    Cremona, O.2    Daams, H.3
  • 19
    • 0029990621 scopus 로고    scopus 로고
    • Deficiency of the integrin beta 4 subunit in junctional epidermolysis bullosa with pyloric atresia: consequences for hemidesmosome formation and adhesion properties
    • Niessen C., van der Raaij-Helmer M., Hulsman E., et al. Deficiency of the integrin beta 4 subunit in junctional epidermolysis bullosa with pyloric atresia: consequences for hemidesmosome formation and adhesion properties. J Cell Sci 1996, 109:1695-1706.
    • (1996) J Cell Sci , vol.109 , pp. 1695-1706
    • Niessen, C.1    van der Raaij-Helmer, M.2    Hulsman, E.3
  • 20
    • 0037439896 scopus 로고    scopus 로고
    • Analysis of the interactions between BP180, BP230, plectin and the integrin alpha6beta4 important for hemidesmosome assembly
    • Koster J., Geerts D., Favre B., et al. Analysis of the interactions between BP180, BP230, plectin and the integrin alpha6beta4 important for hemidesmosome assembly. J Cell Sci 2003, 116:387-399.
    • (2003) J Cell Sci , vol.116 , pp. 387-399
    • Koster, J.1    Geerts, D.2    Favre, B.3
  • 21
    • 0032908323 scopus 로고    scopus 로고
    • Structure and function of hemidesmosomes: more than simple adhesion complexes
    • Borradori L., Sonnenberg A. Structure and function of hemidesmosomes: more than simple adhesion complexes. J Invest Dermatol 1999, 112:411-418.
    • (1999) J Invest Dermatol , vol.112 , pp. 411-418
    • Borradori, L.1    Sonnenberg, A.2
  • 22
    • 0022631878 scopus 로고
    • Hemidesmosome heterogeneity in junctional epidermolysis bullosa revealed by morphometric analysis
    • Tidman M., Eady R. Hemidesmosome heterogeneity in junctional epidermolysis bullosa revealed by morphometric analysis. J Invest Dermatol 1986, 86:51-56.
    • (1986) J Invest Dermatol , vol.86 , pp. 51-56
    • Tidman, M.1    Eady, R.2
  • 23
    • 0029952969 scopus 로고    scopus 로고
    • Localization of laminin-5 in the epidermal basement membrane
    • Masunaga T., Shimizu H., Ishiko A., et al. Localization of laminin-5 in the epidermal basement membrane. J Histochem Cytochem 1996, 44:1223-1230.
    • (1996) J Histochem Cytochem , vol.44 , pp. 1223-1230
    • Masunaga, T.1    Shimizu, H.2    Ishiko, A.3
  • 24
    • 0030798040 scopus 로고    scopus 로고
    • The extracellular domain of BPAG2 localizes to anchoring filaments and its carboxyl terminus extends to the lamina densa of normal human epidermal basement membrane
    • Masunaga T., Shimizu H., Yee C., et al. The extracellular domain of BPAG2 localizes to anchoring filaments and its carboxyl terminus extends to the lamina densa of normal human epidermal basement membrane. J Invest Dermatol 1997, 109:200-206.
    • (1997) J Invest Dermatol , vol.109 , pp. 200-206
    • Masunaga, T.1    Shimizu, H.2    Yee, C.3
  • 25
    • 0030962209 scopus 로고    scopus 로고
    • Most anchoring fibrils in human skin originate and terminate in the lamina densa
    • Shimizu H., Ishiko A., Masunaga T., et al. Most anchoring fibrils in human skin originate and terminate in the lamina densa. Lab Invest 1997, 76:753-763.
    • (1997) Lab Invest , vol.76 , pp. 753-763
    • Shimizu, H.1    Ishiko, A.2    Masunaga, T.3
  • 26
    • 0023035458 scopus 로고
    • Type VII collagen is a major structural component of anchoring fibrils
    • Sakai L., Keene D., Morris N., et al. Type VII collagen is a major structural component of anchoring fibrils. J Cell Biol 1986, 103:1577-1586.
    • (1986) J Cell Biol , vol.103 , pp. 1577-1586
    • Sakai, L.1    Keene, D.2    Morris, N.3
  • 27
    • 0026545645 scopus 로고
    • A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering
    • Lane E., Rugg E., Navsaria H., et al. A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering. Nature 1992, 356:244-246.
    • (1992) Nature , vol.356 , pp. 244-246
    • Lane, E.1    Rugg, E.2    Navsaria, H.3
  • 28
    • 0032965997 scopus 로고    scopus 로고
    • Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation
    • Irvine A., McLean W. Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation. Br J Dermatol 1999, 140:815-828.
    • (1999) Br J Dermatol , vol.140 , pp. 815-828
    • Irvine, A.1    McLean, W.2
  • 29
    • 0025992821 scopus 로고
    • Epidermolysis bullosa simplex (Dowling-Meara type) is a genetic disease characterized by an abnormal keratin-filament network involving keratins K5 and K14
    • Ishida-Yamamoto A., McGrath J., Chapman S., et al. Epidermolysis bullosa simplex (Dowling-Meara type) is a genetic disease characterized by an abnormal keratin-filament network involving keratins K5 and K14. J Invest Dermatol 1991, 97:959-968.
    • (1991) J Invest Dermatol , vol.97 , pp. 959-968
    • Ishida-Yamamoto, A.1    McGrath, J.2    Chapman, S.3
  • 30
    • 77149164409 scopus 로고    scopus 로고
    • Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex
    • Natsuga K., Nishie W., Akiyama M., et al. Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex. Hum Mutat 2010, 31:308-316.
    • (2010) Hum Mutat , vol.31 , pp. 308-316
    • Natsuga, K.1    Nishie, W.2    Akiyama, M.3
  • 31
    • 11944249876 scopus 로고    scopus 로고
    • Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia
    • Pfendner E., Uitto J. Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia. J Invest Dermatol 2005, 124:111-115.
    • (2005) J Invest Dermatol , vol.124 , pp. 111-115
    • Pfendner, E.1    Uitto, J.2
  • 32
    • 14644402383 scopus 로고    scopus 로고
    • Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1)
    • Nakamura H., Sawamura D., Goto M., et al. Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1). J Mol Diagn 2005, 7:28-35.
    • (2005) J Mol Diagn , vol.7 , pp. 28-35
    • Nakamura, H.1    Sawamura, D.2    Goto, M.3
  • 33
    • 33845987032 scopus 로고    scopus 로고
    • Plectin defects in epidermolysis bullosa simplex with muscular dystrophy
    • McMillan J., Akiyama M., Rouan F., et al. Plectin defects in epidermolysis bullosa simplex with muscular dystrophy. Muscle Nerve 2007, 35:24-35.
    • (2007) Muscle Nerve , vol.35 , pp. 24-35
    • McMillan, J.1    Akiyama, M.2    Rouan, F.3
  • 34
    • 9444272226 scopus 로고    scopus 로고
    • Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization
    • McLean W., Pulkkinen L., Smith F., et al. Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization. Genes Dev 1996, 10:1724-1735.
    • (1996) Genes Dev , vol.10 , pp. 1724-1735
    • McLean, W.1    Pulkkinen, L.2    Smith, F.3
  • 35
    • 9344248374 scopus 로고    scopus 로고
    • Plectin deficiency results in muscular dystrophy with epidermolysis bullosa
    • Smith F., Eady R., Leigh I., et al. Plectin deficiency results in muscular dystrophy with epidermolysis bullosa. Nat Genet 1996, 13:450-457.
    • (1996) Nat Genet , vol.13 , pp. 450-457
    • Smith, F.1    Eady, R.2    Leigh, I.3
  • 36
    • 0018719744 scopus 로고
    • Ultrastructure of epidermolyses with junctional blister formation (author's transl)
    • Anton-Lamprecht I., Schnyder U. Ultrastructure of epidermolyses with junctional blister formation (author's transl). Dermatologica 1979, 159:377-382.
    • (1979) Dermatologica , vol.159 , pp. 377-382
    • Anton-Lamprecht, I.1    Schnyder, U.2
  • 37
    • 0029150295 scopus 로고
    • A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in Herlitz junctional epidermolysis bullosa: prenatal exclusion in a fetus at risk
    • McGrath J., Kivirikko S., Ciatti S., et al. A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in Herlitz junctional epidermolysis bullosa: prenatal exclusion in a fetus at risk. Genomics 1995, 29:282-284.
    • (1995) Genomics , vol.29 , pp. 282-284
    • McGrath, J.1    Kivirikko, S.2    Ciatti, S.3
  • 38
    • 0028180092 scopus 로고
    • Mutations in the gamma 2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa
    • Pulkkinen L., Christiano A., Airenne T., et al. Mutations in the gamma 2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa. Nat Genet 1994, 6:293-297.
    • (1994) Nat Genet , vol.6 , pp. 293-297
    • Pulkkinen, L.1    Christiano, A.2    Airenne, T.3
  • 39
    • 0030912199 scopus 로고    scopus 로고
    • A recurrent laminin 5 mutation in British patients with lethal (Herlitz) junctional epidermolysis bullosa: evidence for a mutational hotspot rather than propagation of an ancestral allele
    • Ashton G., Mellerio J., Dunnill M., et al. A recurrent laminin 5 mutation in British patients with lethal (Herlitz) junctional epidermolysis bullosa: evidence for a mutational hotspot rather than propagation of an ancestral allele. Br J Dermatol 1997, 136:674-677.
    • (1997) Br J Dermatol , vol.136 , pp. 674-677
    • Ashton, G.1    Mellerio, J.2    Dunnill, M.3
  • 40
    • 0028989243 scopus 로고
    • Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia
    • Vidal F., Aberdam D., Miquel C., et al. Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia. Nat Genet 1995, 10:229-234.
    • (1995) Nat Genet , vol.10 , pp. 229-234
    • Vidal, F.1    Aberdam, D.2    Miquel, C.3
  • 41
    • 0030912738 scopus 로고    scopus 로고
    • A homozygous mutation in the integrin alpha6 gene in junctional epidermolysis bullosa with pyloric atresia
    • Ruzzi L., Gagnoux-Palacios L., Pinola M., et al. A homozygous mutation in the integrin alpha6 gene in junctional epidermolysis bullosa with pyloric atresia. J Clin Invest 1997, 99:2826-2831.
    • (1997) J Clin Invest , vol.99 , pp. 2826-2831
    • Ruzzi, L.1    Gagnoux-Palacios, L.2    Pinola, M.3
  • 42
    • 0029121987 scopus 로고
    • Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa
    • McGrath J., Gatalica B., Christiano A., et al. Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa. Nat Genet 1995, 11:83-86.
    • (1995) Nat Genet , vol.11 , pp. 83-86
    • McGrath, J.1    Gatalica, B.2    Christiano, A.3
  • 43
    • 0027210982 scopus 로고
    • A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa
    • Christiano A., Greenspan D., Hoffman G., et al. A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa. Nat Genet 1993, 4:62-66.
    • (1993) Nat Genet , vol.4 , pp. 62-66
    • Christiano, A.1    Greenspan, D.2    Hoffman, G.3
  • 44
    • 0021802802 scopus 로고
    • Evaluation of anchoring fibrils and other components of the dermal-epidermal junction in dystrophic epidermolysis bullosa by a quantitative ultrastructural technique
    • Tidman M., Eady R. Evaluation of anchoring fibrils and other components of the dermal-epidermal junction in dystrophic epidermolysis bullosa by a quantitative ultrastructural technique. J Invest Dermatol 1985, 84:374-377.
    • (1985) J Invest Dermatol , vol.84 , pp. 374-377
    • Tidman, M.1    Eady, R.2
  • 45
    • 0029918880 scopus 로고    scopus 로고
    • Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance
    • Christiano A., McGrath J., Tan K., et al. Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance. Am J Hum Genet 1996, 58:671-681.
    • (1996) Am J Hum Genet , vol.58 , pp. 671-681
    • Christiano, A.1    McGrath, J.2    Tan, K.3
  • 47
    • 0242515916 scopus 로고    scopus 로고
    • Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome
    • Jobard F., Bouadjar B., Caux F., et al. Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome. Hum Mol Genet 2003, 12:925-935.
    • (2003) Hum Mol Genet , vol.12 , pp. 925-935
    • Jobard, F.1    Bouadjar, B.2    Caux, F.3
  • 48
    • 58349116039 scopus 로고    scopus 로고
    • Kindler syndrome: a focal adhesion genodermatosis
    • Lai-Cheong J., Tanaka A., Hawche G., et al. Kindler syndrome: a focal adhesion genodermatosis. Br J Dermatol 2009, 160:233-242.
    • (2009) Br J Dermatol , vol.160 , pp. 233-242
    • Lai-Cheong, J.1    Tanaka, A.2    Hawche, G.3
  • 49
    • 70450225549 scopus 로고    scopus 로고
    • Kindler syndrome pathogenesis and fermitin family homologue 1 (kindlin-1) function
    • D'Souza M., Kimble R., McMillan J. Kindler syndrome pathogenesis and fermitin family homologue 1 (kindlin-1) function. Dermatol Clin 2010, 28:115-118.
    • (2010) Dermatol Clin , vol.28 , pp. 115-118
    • D'Souza, M.1    Kimble, R.2    McMillan, J.3
  • 51
    • 77952717243 scopus 로고    scopus 로고
    • Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: correlation between genotype and phenotype
    • Arin M., Grimberg G., Schumann H., et al. Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: correlation between genotype and phenotype. Br J Dermatol 2010, 162:1365-1369.
    • (2010) Br J Dermatol , vol.162 , pp. 1365-1369
    • Arin, M.1    Grimberg, G.2    Schumann, H.3
  • 52
    • 34247111319 scopus 로고    scopus 로고
    • Review of collagen VII sequence variants found in Australasian patients with dystrophic epidermolysis bullosa reveals nine novel COL7A1 variants
    • Dang N., Klingberg S., Marr P., et al. Review of collagen VII sequence variants found in Australasian patients with dystrophic epidermolysis bullosa reveals nine novel COL7A1 variants. J Dermatol Sci 2007, 46:169-178.
    • (2007) J Dermatol Sci , vol.46 , pp. 169-178
    • Dang, N.1    Klingberg, S.2    Marr, P.3
  • 53
    • 38949094346 scopus 로고    scopus 로고
    • A frequent functional SNP in the MMP1 promoter is associated with higher disease severity in recessive dystrophic epidermolysis bullosa
    • Titeux M., Pendaries V., Tonasso L., et al. A frequent functional SNP in the MMP1 promoter is associated with higher disease severity in recessive dystrophic epidermolysis bullosa. Hum Mutat 2008, 29:267-276.
    • (2008) Hum Mutat , vol.29 , pp. 267-276
    • Titeux, M.1    Pendaries, V.2    Tonasso, L.3
  • 54
    • 77952522953 scopus 로고    scopus 로고
    • Dopping-Hepenstal P. Transmission electron microscopy for the diagnosis of epidermolysis bullosa. Dermatol Clin 2010;28:211-22, vii.
    • Eady R, Dopping-Hepenstal P. Transmission electron microscopy for the diagnosis of epidermolysis bullosa. Dermatol Clin 2010;28:211-22, vii.
    • Eady, R.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.