Heterozygosity for premature termination codon mutations in LAMB3 in siblings with non-lethal junctional epidermolysis bullosa [8]

Journal of Investigative Dermatology

Volumn 111, Issue 6, 1998, Pages 1244-1246

  Pulkkinen, L ^a   Uitto, J ^a  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; EPIDERMOLYSIS BULLOSA; GENE MAPPING; GENE MUTATION; HETEROZYGOSITY; HUMAN; LETTER; PRIORITY JOURNAL; SIBLING; STOP CODON;

EID: 0032448061     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.1998.00399.x     Document Type: Letter

References (11)

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3. Y. Cui K.W. Hagan S. Zhang S.W. Peltz Identification and characterization of genes that are required for the accelerated degradation of mRNAs containing a premature translational termination codon Genes Develop 9 1995 423 436
4. J.-D. Fine E.A. Bauer R.A. Briggaman Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa: a Consensus Report by the Subcommittee on Diagnosis and Classification of the National Epidermolysis Bullosa Registry J Am Acad Dermatol 24 1991 119 135
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8. L. Pulkkinen A.M. Christiano D. Gerecke D.W. Wagman R.E. Burgeson M.R. Pittelkow J. Uitto A homozygous nonsense mutation in the β;3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa Genomics 24 1994 357 360
9. L. Pulkkinen J. Uitto A.M. Christiano The molecular basis of the junctional forms of epidermolysis bullosa J.D. Fine E.A. Bauer J. Mcguire A. Moshell Epidermolysis Bullosa. Clinical, Epidemiologic, and Laboratory Advances, and the Findings of the National Epidermolysis Bullosa Registry 1999 The Johns Hopkins University Press Baltimore, MD
10. M.J. Tidman RaJ Eady Hemidesmosome heterogeneity in junctional epidermolysis bullosa revealed by morphometric analysis J Invest Dermatol 86 1986 51 56
11. P. Verrando C. Blanchet-Bardon A. Pisani Monoclonal antibody GB3 defines a widespread defect of several basement membranes and a keratinocyte dysfunction in patients with lethal junctional epidermolysis bullosa Lab Invest 64 1991 85 92