Epidermolysis bullosa simplex:ケラチン遺伝子異常の2つのファミリーにおける証拠

J M Bonifas1, A L Rothman, E H Epstein

  • 1Department of Dermatology, San Francisco General Hospital, University of California 94110.

Science (New York, N.Y.)
|December 2, 1991
PubMed
まとめ

Epidermolysis bullosa simplex (EBS) は,遺伝的に発疹する皮膚疾患である. ケラチン14またはケラチン5遺伝子の変異は,ケラチンの中間線維の安定性を損ない,肌の繊細な細胞を引き起こす.

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