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Characterization of Rare Genetic Variation in Polycystic Ovary Syndrome

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서명/저자사항Characterization of Rare Genetic Variation in Polycystic Ovary Syndrome.
개인저자Gorsic, Lidija Kristina.
단체저자명Northwestern University. Life Sciences.
발행사항[S.l.]: Northwestern University., 2018.
발행사항Ann Arbor: ProQuest Dissertations & Theses, 2018.
형태사항160 p.
기본자료 저록Dissertation Abstracts International 79-11B(E).
Dissertation Abstract International
ISBN9780438117174
학위논문주기Thesis (Ph.D.)--Northwestern University, 2018.
일반주기 Source: Dissertation Abstracts International, Volume: 79-11(E), Section: B.
Advisers: Ji-Yong Julie Kim
요약Polycystic ovary syndrome (PCOS) is a common endocrine disorder affecting approximately 1 in 10 reproductive-age women and remains the leading cause of female factor infertility among women of childbearing age. PCOS presents with features of hyp
요약Two of the 11 panel genes included anti-Mullerian hormone ( AMH) and its specific type II receptor (AMHR2). Women affected with PCOS often have elevated levels of AMH. In the ovary AMH inhibits follicle maturation, thus the elevated AMH levels s
요약Given that PCOS is a complex disorder with a heterogeneous presentation, several genes and pathways likely lead to various PCOS phenotypes. Analyses of targeted resequencing data also identified predicted deleterious missense variants, specific
일반주제명Genetics.
Endocrinology.
언어영어
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