메뉴 건너뛰기




Volumn 106, Issue 4, 1996, Pages 775-777

Compound Heterozygosity for Nonsense and Missense Mutations in the LAMB3 Gene in Nonlethal Junctional Epidermolysis Bullosa

Author keywords

Anchoring filaments; Laminin 5

Indexed keywords

LAMININ;

EID: 0029670320     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1111/1523-1747.ep12346246     Document Type: Article
Times cited : (19)

References (17)
  • 2
    • 0025162587 scopus 로고
    • Translation to near the distal end of the penultimate exon is required for normal levels of spliced triosephosphate isomerase mRNA
    • Cheng J, Fogel-Petrovic M, Maquat LE: Translation to near the distal end of the penultimate exon is required for normal levels of spliced triosephosphate isomerase mRNA. Mol Cell Biol 10:5215-5225, 1990
    • (1990) Mol Cell Biol , vol.10 , pp. 5215-5225
    • Cheng, J.1    Fogel-Petrovic, M.2    Maquat, L.E.3
  • 4
    • 0027433113 scopus 로고
    • Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: Evidence for solvent-induced bends in DNA heteroduplexes
    • Ganguly A, Rock MJ, Prockop DJ: Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes. Proc Natl Acad Sci USA 90:10325-10329, 1993
    • (1993) Proc Natl Acad Sci USA , vol.90 , pp. 10325-10329
    • Ganguly, A.1    Rock, M.J.2    Prockop, D.J.3
  • 5
    • 0022388641 scopus 로고
    • Abnormal binding of an anti-amnion antibody to epidermal basement membrane provides a novel diagnostic probe for junctional epidermolysis bullosa
    • Kennedy AR, Heagerty AHM, Ortonne J-P, Hsi B-L, Yeh C-JG, Eady RAJ: Abnormal binding of an anti-amnion antibody to epidermal basement membrane provides a novel diagnostic probe for junctional epidermolysis bullosa. Br J Dermatol 113:651-659, 1985
    • (1985) Br J Dermatol , vol.113 , pp. 651-659
    • Kennedy, A.R.1    Heagerty, A.H.M.2    Ortonne, J.-P.3    Hsi, B.-L.4    Yeh, C.-J.G.5    Eady, R.A.J.6
  • 8
    • 0029121987 scopus 로고
    • Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa
    • McGrath JA, Gatalica B, Christiano AM, Li K, Owaribe K, McMillan JR, Eady RAJ, Uitto J: Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa. Nat Genet 11:83-86, 1995a
    • (1995) Nat Genet , vol.11 , pp. 83-86
    • McGrath, J.A.1    Gatalica, B.2    Christiano, A.M.3    Li, K.4    Owaribe, K.5    McMillan, J.R.6    Eady, R.A.J.7    Uitto, J.8
  • 10
    • 0028919592 scopus 로고
    • Altered laminin 5 expression due to mutations in the gene encoding the β3 chain (LAMB3) in generalized atrophic benign epidermolysis bullosa
    • McGrath JA, Pulkkinen L, Christiano AM, Leigh IM, Eady RAJ, Uitto J: Altered laminin 5 expression due to mutations in the gene encoding the β3 chain (LAMB3) in generalized atrophic benign epidermolysis bullosa. J Invest Dermatol 104:467-474, 1995c
    • (1995) J Invest Dermatol , vol.104 , pp. 467-474
    • McGrath, J.A.1    Pulkkinen, L.2    Christiano, A.M.3    Leigh, I.M.4    Eady, R.A.J.5    Uitto, J.6
  • 11
    • 0028180092 scopus 로고
    • Mutations in the γ2 chain gene (LAMC2) of kalinin/laminin-5 in the junctional forms of epidermolysis bullosa
    • Pulkkinen L, Christiano AM, Airenne T, Haakana H, Tryggvason K, Uitto J: Mutations in the γ2 chain gene (LAMC2) of kalinin/laminin-5 in the junctional forms of epidermolysis bullosa. Nat Genet 6:293-298, 1994a
    • (1994) Nat Genet , vol.6 , pp. 293-298
    • Pulkkinen, L.1    Christiano, A.M.2    Airenne, T.3    Haakana, H.4    Tryggvason, K.5    Uitto, J.6
  • 12
  • 13
    • 0029067313 scopus 로고
    • Detection of sequence variants in the gene encoding the β3 chain of laminin 5 (LAMB3)
    • Pulkkinen L, McGrath JA, Christiano AM, Uitto J: Detection of sequence variants in the gene encoding the β3 chain of laminin 5 (LAMB3). Hum Mutat 6:77-84, 1995
    • (1995) Hum Mutat , vol.6 , pp. 77-84
    • Pulkkinen, L.1    McGrath, J.A.2    Christiano, A.M.3    Uitto, J.4
  • 16
    • 0022631878 scopus 로고
    • Hemidesmosome heterogeneity in junctional epidermolysis bullosa revealed by morphometric analysis
    • Tidman MJ, Eady RAJ: Hemidesmosome heterogeneity in junctional epidermolysis bullosa revealed by morphometric analysis. J Invest Dermatol 86:51-56, 1986
    • (1986) J Invest Dermatol , vol.86 , pp. 51-56
    • Tidman, M.J.1    Eady, R.A.J.2
  • 17
    • 0024349521 scopus 로고
    • Nonsense mutations in the dihydrofolate reductase gene affect RNA processing
    • Urlaub G, Mitchell PJ, Ciudad CJ, Chasin LA: Nonsense mutations in the dihydrofolate reductase gene affect RNA processing. Mol Cell Biol 9:2868-2880, 1989
    • (1989) Mol Cell Biol , vol.9 , pp. 2868-2880
    • Urlaub, G.1    Mitchell, P.J.2    Ciudad, C.J.3    Chasin, L.A.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.