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

1 July 1994

journal article
research article
Published by Oxford University Press (OUP) in Human Molecular Genetics

Vol. 3 (7) , 1171-1172
https://doi.org/10.1093/hmg/3.7.1171

Abstract

Kiyofumi Yamanishi, Masato Matsukl, Kelsuke Konishi, Hirokazu Yasuno; A novel mutation of Leu122 to Phe at a highly conserved hydrophobic residue in the helix

Keywords

NOVEL MUTATION
LEU
SUP
PHE
HIGHLY CONSERVED HYDROPHOBIC
CONSERVED HYDROPHOBIC RESIDUE
MATSUKL

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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

Abstract

Keywords

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