Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability

Premature ovarian failure (POF) is a genetically and phenotypically heterogeneous disorder that includes individuals with manifestations ranging from primary amenorrhea to loss of menstrual function prior to age 40. POF presents as hypergonadotropic hypogonadism and can be part of a syndrome or occu...

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Vydáno v:J Clin Invest
Hlavní autoři: AlAsiri, Saleh, Basit, Sulman, Wood-Trageser, Michelle A., Yatsenko, Svetlana A., Jeffries, Elizabeth P., Surti, Urvashi, Ketterer, Deborah M., Afzal, Sibtain, Ramzan, Khushnooda, Faiyaz-Ul Haque, Muhammad, Jiang, Huaiyang, Trakselis, Michael A., Rajkovic, Aleksandar
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Clinical Investigation 2014
Témata:
Brief Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4382257/
https://ncbi.nlm.nih.gov/pubmed/25437880
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI78473
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