A study of splicing mutations in disorders of sex development

The presence of splicing sequence variants in genes responsible for sex development in humans may compromise correct biosynthesis of proteins involved in the normal development of gonads and external genitalia. In a cohort of Brazilian patients, we identified mutations in HSD17B3 and SRD5A2 which ar...

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Detalles Bibliográficos
Autores principales: de Calais, Flavia Leme, Smith, Lindsay D., Raponi, Michela, Maciel-Guerra, Andréa Trevas, Guerra-Junior, Gil, de Mello, Maricilda Palandi, Baralle, Diana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5701223/
https://www.ncbi.nlm.nih.gov/pubmed/29176693
http://dx.doi.org/10.1038/s41598-017-16296-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5701223/
https://www.ncbi.nlm.nih.gov/pubmed/29176693
http://dx.doi.org/10.1038/s41598-017-16296-3

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