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Six mutations in AAGAB confirm its pathogenic role in Chinese punctate palmoplantar keratoderma pati
ISSN号:0022-202X
期刊名称:Journal of Investigative Dermatology
时间:2013.11
页码:2631-2634
相关项目:外显子测序鉴定进行性对称性红斑角化症的致病基因研究
作者:
Yang, Sen|Wang, Jun|Cui, Yong|Zhang, Xuejun|
同期刊论文项目
外显子测序鉴定进行性对称性红斑角化症的致病基因研究
期刊论文 10
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Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis.
Progressive symmetrical erythrokeratoderma: report of two Chinese families and evaluation for mutati
Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis.
Exome sequencing identifies SLC17A9 pathogenic gene in two Chinese pedigrees with disseminated super
Exome sequencing identifies a COL14A1 mutation in a large Chinese pedigree with punctate palmoplanta