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- W2004331118 abstract "A previously undescribed missense mutation was detected in the L12 domain of keratin 5 (K5) in a Chinese family with Weber-Cockayne epidermolysis bullosa simplex. Direct sequencing of the PCR products identified a single base substitution (983A-->G) that changes the aspartic acid residue at codon 328 to glycine in all affected family members, while no mutation was observed either in the healthy individual or 50 unrelated control samples. Asp328 of K5 is remarkably conserved among all type II keratins. D328G is the fourth mutation found to affect this residue in K5-related epidermolysis bullosa simplex, indicating the importance of Asp328 for K5 structure and the dramatic effect that fine changes can have on keratin intermediate filament integrity." @default.
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- W2004331118 date "2004-09-01" @default.
- W2004331118 modified "2023-10-16" @default.
- W2004331118 title "A new mutation in the linker 12 domain of keratin 5 in a Chinese family with Weber-Cockayne epidermolysis bullosa simplex" @default.
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- W2004331118 doi "https://doi.org/10.1111/j.1365-2230.2004.01565.x" @default.
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