NR5A1 mutations are not associated with male infertility in Indian men
Author:
Affiliation:
1. CSIR-Centre for Cellular and Molecular Biology (CCMB); Hyderabad India
2. Institute of Reproductive Medicine; Kolkata India
3. Infertility Institute and Research Center; Secunderabad India
4. Genome Foundation; Hyderabad India
Funder
Council of Scientific and Industrial Research
Indian Council of Medical Research
Publisher
Wiley
Subject
Urology,Endocrinology,General Medicine
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/and.12931/fullpdf
Reference27 articles.
1. A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development;Bashamboo;Human Molecular Genetics,2016
2. Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1;Bashamboo;American Journal of Human Genetics,2010
3. A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia;Dhandapany;Nature Genetics,2009
4. NR5A1 loss-of-function mutations lead to 46,XY partial gonadal dysgenesis phenotype: Report of three novel mutations;Fabbri;Sexual Development,2016
5. A novel missense mutation 224G>T (R75M) in SRY coding region interferes with nuclear import and results in 46, XY complete gonadal dysgenesis;Fan;PLoS One,2016
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