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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Detalhes bibliográficos
Publicado no:J Clin Invest
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2014
Assuntos:
Brief Report
Acesso em linha: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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