应用全外显子组测序技术鉴定1个白化病家系致病基因
HPS1
游国岭, 张立辰, 张晓青, 李晓亮, 傅启华, 王波
Whole exome sequencing for identifying
HPS1 as causative gene in a pedigree with albinism
YOU Guoling, ZHANG Lichen, ZHANG Xiaoqing, LI Xiaoliang, FU Qihua, WANG Bo
检验医学
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2017, (4): 272
-275
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DOI: 10.3969/j.issn.1673-8640.2017.04.006
