Nonsense-associated altered splicing of MAP3K1 in two siblings with 46,XY disorders of sex development

Although splicing errors due to single nucleotide variants represent a common cause of monogenic disorders, only a few variants have been shown to create new splice sites in exons. Here, we report an MAP3K1 splice variant identified in two siblings with 46,XY disorder of sex development. The patient...

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Detalles Bibliográficos
Autores principales: Igarashi, Maki, Masunaga, Yohei, Hasegawa, Yuichi, Kinjo, Kenichi, Miyado, Mami, Saitsu, Hirotomo, Kato-Fukui, Yuko, Horikawa, Reiko, Okubo, Yomiko, Ogata, Tsutomu, Fukami, Maki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7567082/
https://www.ncbi.nlm.nih.gov/pubmed/33060765
http://dx.doi.org/10.1038/s41598-020-74405-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7567082/
https://www.ncbi.nlm.nih.gov/pubmed/33060765
http://dx.doi.org/10.1038/s41598-020-74405-1

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