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.
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Yamanishi K, Matsuki M, Konishi K, Yasuno H
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.
Hum Mol Genet. 1994 Jul;3(7):1171-2.
- PubMed ID
- 7526926 [ View in PubMed]
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