A case of epidermolysis bullosa simplex with a newly found missense mutation and polymorphism in the highly conserved helix termination motif among type I keratins, which was previously reported as a pathogenic missense mutation.
A case of epidermolysis bullosa simplex with a newly found missense mutation and polymorphism in the highly conserved helix termination motif among type I keratins, which was previously reported as a pathogenic missense mutation.
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单纯性大疱性表皮松解症一例，新发现I型角蛋白高度保守的螺旋终止基序错义突变和多态性，此前报道为致病性错义突变。
DOI：
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发表时间：
2006
期刊：
影响因子：
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通讯作者：
Hashimoto T.
中科院分区：
文献类型：
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作者：
Hattori N;Komine M;Kaneko T;Shimazu K;Tsunemi Y;Koizumi M;Goto J;Hashimoto T.
