Article
Novel mutations in the LAMB3 gene shared by two Japanese unrelated families with Herlitz junctional epidermolysis bullosa, and their application for prenatal testing.
The Journal of investigative dermatology - 1 Feb 1998
Takizawa Y, Shimizu H, Pulkkinen L, Hiraoka Y, McGrath J A, Suzumori K, Aiso S, Uitto J, Nishikawa T
Abstract excerpt
The LAMB3 gene encoding the beta3 chain of laminin 5 is a candidate gene for mutations in the autosomal recessive blistering skin disorder, junctional epidermolysis bullosa. In this study, we performed genetic analyses in two unrelated Japanese families with Herlitz junctional epidermolysis bullosa and identified two novel nonsense mutations in the LAMB3 gene. One of them, Q166X (CAG --> TAG), was found in the...
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