Human Exome sequence of a POF family
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下载链接：
https://www.ncbi.nlm.nih.gov/sra/SRP046742
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资源简介：
A Saudi Arabia family. The parents are first cousins. 3 daughters have primary amenorrhea, hypothyroidism and hypergonadotropic hypogonadism. Our study find a new MCM8 gene autosomal recessive mutation is related to the affected daughters endocrine dysfunction and genomic instability.
创建时间：
2017-09-17
