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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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發表在: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
格式: Artigo
語言:Inglês
出版: Nature Publishing Group UK 2020
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在線閱讀: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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