Epidermolysis bullosa simplex (Weber-Cockayne) associated with a novel missense mutation of Asp328 to Val in Linker 12 domain of keratin 5.

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Matsuki M, Hashimoto K, Yoshikawa K, Yasuno H, Yamanishi K

Epidermolysis bullosa simplex (Weber-Cockayne) associated with a novel missense mutation of Asp328 to Val in Linker 12 domain of keratin 5.

Hum Mol Genet. 1995 Oct;4(10):1999-2000.

PubMed ID
8595431 [ View in PubMed
]
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Polypeptides
NameUniProt ID
Keratin, type II cytoskeletal 5P13647Details