Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as sporadic case

Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as sporadic case
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鉴定先证者先前被视为散发病例的单纯性大疱性表皮松解症家系中角蛋白 5 突变的体细胞和种系嵌合体

DOI:
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发表时间:
2004
期刊:
Clin Genet 66
影响因子:
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通讯作者:
N Kondo
N Kondo
中科院分区:
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文献类型:
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作者:
M Nagao-Watanabe;T Fukao;E Matsui;H Kaneko;R Inoue;N Kawamoto;K Kasahara;M Nagai;Y Ichiki;Y Kitajima;N Kondo

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