Exome sequencing reveals novel causes as well as new candidate genes for human globozoospermia

STUDY QUESTION: Can exome sequencing identify new genetic causes of globozoospermia? SUMMARY ANSWER: Exome sequencing in 15 cases of unexplained globozoospermia revealed deleterious mutations in seven new genes, of which two have been validated as causing globozoospermia when knocked out in mouse mo...

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Detalles Bibliográficos
Autores principales: Oud, M S, Okutman, Ö, Hendricks, L A J, de Vries, P F, Houston, B J, Vissers, L E L M, O’Bryan, M K, Ramos, L, Chemes, H E, Viville, S, Veltman, J A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6993856/
https://www.ncbi.nlm.nih.gov/pubmed/31985809
http://dx.doi.org/10.1093/humrep/dez246

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6993856/
https://www.ncbi.nlm.nih.gov/pubmed/31985809
http://dx.doi.org/10.1093/humrep/dez246

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