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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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Sci Rep
Egile Nagusiak: Igarashi, Maki, Masunaga, Yohei, Hasegawa, Yuichi, Kinjo, Kenichi, Miyado, Mami, Saitsu, Hirotomo, Kato-Fukui, Yuko, Horikawa, Reiko, Okubo, Yomiko, Ogata, Tsutomu, Fukami, Maki
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Nature Publishing Group UK 2020
Gaiak:
Article
Sarrera elektronikoa: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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