메뉴 건너뛰기




Volumn 150, Issue 3, 2004, Pages 609-611

The P25L mutation in the KRT5 gene in a Japanese family with epidermolysis bullosa simplex with mottled pigmentation [9]

Author keywords

[No Author keywords available]

Indexed keywords

CASE REPORT; CLINICAL EXAMINATION; DISEASE ASSOCIATION; EPIDERMOLYSIS BULLOSA SIMPLEX; GENE; GENE MUTATION; HUMAN; HUMAN TISSUE; INFANT; KRT5 GENE; LETTER; MALE; NUCLEOTIDE SEQUENCE; PIGMENT DISORDER; PRIORITY JOURNAL; SKIN BIOPSY; TRANSMISSION ELECTRON MICROSCOPY;

EID: 1842454253     PISSN: 00070963     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2133.2004.05820.x     Document Type: Letter
Times cited : (14)

References (9)
  • 1
    • 0027319586 scopus 로고
    • Epidermolysis bullosa simplex with mottled pigmentation
    • Coleman R, Harper JI, Lake BD, Epidermolysis bullosa simplex with mottled pigmentation. Br J Dermatol 1993; 128: 679-85.
    • (1993) Br J Dermatol , vol.128 , pp. 679-685
    • Coleman, R.1    Harper, J.I.2    Lake, B.D.3
  • 2
    • 0028337079 scopus 로고
    • Epidermolysis bullosa simplex with mottled pigmentation. Case report and review of the literature
    • Combemale P, Kanitakis J. Epidermolysis bullosa simplex with mottled pigmentation. Case report and review of the literature. Dermatology 1994; 189: 173-8.
    • (1994) Dermatology , vol.189 , pp. 173-178
    • Combemale, P.1    Kanitakis, J.2
  • 3
    • 0035122099 scopus 로고    scopus 로고
    • Molecular confirmation of the unique phenotype of epidermolysis bullosa simplex with mottled pigmentation
    • Irvine AD, Rugg EL, Lane EB et al. Molecular confirmation of the unique phenotype of epidermolysis bullosa simplex with mottled pigmentation. Br J Dermatol 2001; 144: 40-5.
    • (2001) Br J Dermatol , vol.144 , pp. 40-45
    • Irvine, A.D.1    Rugg, E.L.2    Lane, E.B.3
  • 4
    • 0029810901 scopus 로고    scopus 로고
    • The genetic basis of epidermolysis bullosa simplex with mottled pigmentation
    • Uttam J, Hutton E, Coulombe PA et al. The genetic basis of epidermolysis bullosa simplex with mottled pigmentation. Proc Natl Acad Sci USA 1996; 93: 9079-84.
    • (1996) Proc Natl Acad Sci USA , vol.93 , pp. 9079-9084
    • Uttam, J.1    Hutton, E.2    Coulombe, P.A.3
  • 5
    • 0030890858 scopus 로고    scopus 로고
    • A mutation in the V1 domain of keratin 5 causes epidermolysis bullosa simplex with mottled pigmentation
    • Irvine AD, McKenna KE, Jenkinson H, Hughes AE. A mutation in the V1 domain of keratin 5 causes epidermolysis bullosa simplex with mottled pigmentation. J Invest Dermatol 1997; 108: 809-10.
    • (1997) J Invest Dermatol , vol.108 , pp. 809-810
    • Irvine, A.D.1    McKenna, K.E.2    Jenkinson, H.3    Hughes, A.E.4
  • 6
    • 0032843899 scopus 로고    scopus 로고
    • Epidermolysis bullosa simplex with mottled pigmentation: Clinical aspects and confirmation of the P24L mutation in the KRT5 gene in further patients
    • Moog U, de Die-Smulders CE, Scheffer H et al. Epidermolysis bullosa simplex with mottled pigmentation: clinical aspects and confirmation of the P24L mutation in the KRT5 gene in further patients. Am J Med Genet 1999; 86: 376-9.
    • (1999) Am J Med Genet , vol.86 , pp. 376-379
    • Moog, U.1    De Die-Smulders, C.E.2    Scheffer, H.3
  • 7
    • 0020171992 scopus 로고
    • Protein chemical characterization of three structurally distinct domains along the protofilament unit of desmin 10 nm filaments
    • Geisler N, Kaufmann E, Weber K. Protein chemical characterization of three structurally distinct domains along the protofilament unit of desmin 10 nm filaments. Cell 1982; 30: 277-86.
    • (1982) Cell , vol.30 , pp. 277-286
    • Geisler, N.1    Kaufmann, E.2    Weber, K.3
  • 8
    • 0026640553 scopus 로고
    • The roles of K5 and K14 head, tail, and R/K L L E G E domains in keratin filament assembly in vitro
    • Wilson AK, Coulombe PA, Fuchs E. The roles of K5 and K14 head, tail, and R/K L L E G E domains in keratin filament assembly in vitro. J Cell Biol 1992; 119: 401-14.
    • (1992) J Cell Biol , vol.119 , pp. 401-414
    • Wilson, A.K.1    Coulombe, P.A.2    Fuchs, E.3
  • 9
    • 0027987929 scopus 로고
    • Making a connection: Direct binding between keratin intermediate filaments and desmosomal proteins
    • Kouklis PD, Hutton E, Fuchs E. Making a connection: direct binding between keratin intermediate filaments and desmosomal proteins. J Cell Biol 1994; 127: 1049-60.
    • (1994) J Cell Biol , vol.127 , pp. 1049-1060
    • Kouklis, P.D.1    Hutton, E.2    Fuchs, E.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.