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Yamanishi Kiyofumi
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http://hub.abes.fr/oup/periodical/hmg/1994/volume_3/issue_7/101093hmg371171/authorship/1
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A novel mutation of Leu122 to Phe at a highly conserved hydrophobic residue in the helix initiation motif of keratin 14 in epidermolysis bultosa simplex
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