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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
Publicado en:Sci Rep
Main Authors: Igarashi, Maki, Masunaga, Yohei, Hasegawa, Yuichi, Kinjo, Kenichi, Miyado, Mami, Saitsu, Hirotomo, Kato-Fukui, Yuko, Horikawa, Reiko, Okubo, Yomiko, Ogata, Tsutomu, Fukami, Maki
Formato: Artigo
Idioma:Inglês
Publicado: Nature Publishing Group UK 2020
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7567082/
https://ncbi.nlm.nih.gov/pubmed/33060765
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-020-74405-1
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