Japanese case of Herlitz junctional epidermolysis bullosa that initially showed a few blisters on the limited area
Author:
Affiliation:
1. Department of Dermatology; Faculty of Medicine; Toho University; Tokyo Japan
2. Department of Neonatology; Faculty of Medicine; Toho University; Tokyo Japan
3. Fundamental Research Laboratories; KOSÉ; Tokyo Japan
Publisher
Wiley
Subject
Dermatology,General Medicine
Reference5 articles.
1. Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants;Varki;J Med Genet,2006
2. Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa;Kivirikko;Hum Mol Genet,1996
3. Herlitz junctional epidermolysis bullosa: novel and recurrent mutations in the LAMB3 gene and the population carrier frequency;Nakano;J Invest Dermatol,2000
4. Absence of R42X and R635X mutations in the LAMB3 gene in 12 Japanese patients with junctional epidermolysis bullosa;Shimizu;Arch Dermatol Res,1997
5. Predominance of the recurrent mutation R635X in the LAMB3 gene in European patients with Herlitz junctional epidermolysis bullosa has implications for mutation detection strategy;Pulkkinen;J Invest Dermatol,1997
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1. Targeted next-generation sequencing identifies a novel mutation of LAMB3 in a Chinese neonatal patient presented with junctional epidermolysis bullosa;Medicine;2018-12
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