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-Reference-Cited by-同舟云学术

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

Published:1997-05 Issue:5 Volume:136 Page:674-677
ISSN:0007-0963
Container-title:British Journal of Dermatology
language:en
Short-container-title:

Author:

ASHTON G.H.S.,MELLERIO J.E.,DUNNILL M.G.S.,PULKKINEN L.,CHRISTIANO A.M.,UITTO J.,EADY R.A.J.,McGRATH J.A.

Publisher

Wiley

Subject

Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1046/j.1365-2133.1997.6541616.x/fullpdf

Reference12 articles.

1. 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;Fine;J Am Acad Dermatol,1991

2. Hemidesmosome heterogeneity in junctional epidermolysis bullosa revealed by morphometric analysis;Tidman;J Invest Dermatol,1986

3. GB3 monoclonal antibody for the diagnosis of junctional epidermolysis bullosa: results of a multicenter study;Schofield;J Am Acad Dermatol,1990

4. Molecular complexity of the cutaneous basement membrane zone. Revelations from the paradigms of epidermolysis bullosa;Christiano;Exp Dermatol,1996

5. Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa;Kivirikko;Hum Mol Genet,1996

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1. Current Advances in Gene Therapy for the Treatment of Genodermatoses;Current Gene Therapy;2009-12-01

2. Single nucleotide polymorphism in a commonly utilized LAMB3 primer sequence: Implications for mutation detection and haplotype analysis in junctional epidermolysis bullosa;Journal of Dermatological Science;2006-10

3. Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants;Journal of Medical Genetics;2006-08-01

4. Complete paternal uniparental isodisomy of chromosome 1 resulting in Herlitz junctional epidermolysis bullosa;Clinical and Experimental Dermatology;2005-01

5. Herlitz Junctional Epidermolysis Bullosa: Novel and Recurrent Mutations in the LAMB3 Gene and the Population Carrier Frequency;Journal of Investigative Dermatology;2000-09