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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Bibliografiske detaljer
Udgivet i: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
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group UK 2020
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Article
Online adgang: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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