A novel mutation of Leu122 to Phe at a highly cons...[Hum Mol Genet. 1994] - PubMed Result

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1: Hum Mol Genet. 1994 Jul;3(7):1171-2. Links

A novel mutation of Leu122 to Phe at a highly conserved hydrophobic residue in the helix initiation motif of keratin 14 in epidermolysis bullosa simplex.

Yamanishi K, Matsuki M, Konishi K, Yasuno H.

Department of Dermatology, Kyoto Prefectural University of Medicine, Japan.

PMID: 7526926 [PubMed - indexed for MEDLINE]

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