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- W2019934920 abstract "We describe two cases of a 3‐year‐old Japanese boy and his 1‐year‐old sister presenting recessive dystrophic epidermolysis bullosa; a relatively mild phenotype. Blistering and scarring were limited to the acral region, and some fingernails and toenails were lost. PCR‐RFLP and DNA sequencing analyses revealed compound heterozygotes for a splice‐site mutation (6573 +1GtoC) and a nonsense mutation (E2857X) in the type VII collagen gene (COL7A1). Both mutations caused a premature termination codon (PTC). The mutation E2857X was located behind the candidate cleavage site within the NC‐2 domain required for the assembly of anchoring fibrils. This PTC position may explain their mild phenotype." @default.
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- W2019934920 date "2006-01-20" @default.
- W2019934920 modified "2023-10-10" @default.
- W2019934920 title "Compound heterozygosity in sibling patients with recessive dystrophic epidermolysis bullosa associated with a mild phenotype" @default.
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- W2019934920 doi "https://doi.org/10.1111/j.1365-4632.2006.02774.x" @default.
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