系谱图
眼白化病
遗传学
桑格测序
突变
复合杂合度
白化病
生物
基因
作者
Haiyun Ye,Xiaoping Lan,Tong Qiao,Wuhen Xu,Xiaojun Tang,Yongchen Yang,Hong Zhang
出处
期刊:PubMed
日期:2019-03-10
卷期号:36 (3): 212-216
被引量:1
标识
DOI:10.3760/cma.j.issn.1003-9406.2019.03.005
摘要
The findings of this study expand the mutational spectrum of OCA. Compound heterozygous mutations in the TYR and OCA2 gene may be responsible for clinical manifestations of 2 pedigrees with suspected OCA.
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