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A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula
Deafblindness is mostly due to Usher syndrome caused by recessive mutations in the known genes. Mutation-negative patients therefore either have distinct diseases, mutations in yet unknown Usher genes or in extra-exonic parts of the known genes – to date a largely unexplored possibility. In a consan...
Kaydedildi:
| Yayımlandı: | Sci Rep |
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| Asıl Yazarlar: | , , , , , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Nature Publishing Group UK
2017
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5431179/ https://ncbi.nlm.nih.gov/pubmed/28469144 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-01577-8 |
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