Article
Founder mutation in dystonin-e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait.
The British journal of dermatology - 1 Feb 2015
Takeichi T, Nanda A, Liu L, Aristodemou S, McMillan J R, Sugiura K, Akiyama M, Al-Ajmi H, Simpson M A, McGrath J A
Abstract excerpt
Only two homozygous nonsense mutations in the epidermal isoform of the dystonin gene, DST-e, have been reported previously in autosomal recessive epidermolysis bullosa simplex (EBS); the affected pedigrees were Kuwaiti and Iranian. This subtype of EBS is therefore considered to be a rare clinicopathological entity. In this study, we identified four seemingly unrelated Kuwaiti families in which a total of seven...
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