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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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| Publicado no: | Sci Rep |
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| Main Authors: | , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group UK
2020
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| Assuntos: | |
| Acesso em linha: | 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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