Whole-exome sequencing identifies two novel ALMS1 mutations in Indian patients with Leber congenital amaurosis

Leber congenital amaurosis (LCA) is a severe autosomal recessive retinal degenerative disease. The current study describes exome sequencing results for two unrelated Indian LCA patients carrying novel nonsense p.(Glu636*) and frameshift p.(Pro2281Leufs*63) mutations in the ALMS1 gene. Although ALMS1...

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Detaylı Bibliyografya
Yayımlandı:Hum Genome Var
Asıl Yazarlar: Srikrupa, Natarajan N., Sripriya, Sarangapani, Pavithra, Suriyanarayanan, Sen, Parveen, Gupta, Ravi, Mathavan, Sinnakaruppan
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Nature Publishing Group UK 2021
Konular:
Data Report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC8007799/
https://ncbi.nlm.nih.gov/pubmed/33782391
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-021-00143-z
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