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

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

Abstract 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. Altho...

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Bibliographic Details
Main Authors: Natarajan N. Srikrupa, Sarangapani Sripriya, Suriyanarayanan Pavithra, Parveen Sen, Ravi Gupta, Sinnakaruppan Mathavan
Format: Article
Language:English
Published: Nature Publishing Group 2021-03-01
Series:Human Genome Variation
Online Access:https://doi.org/10.1038/s41439-021-00143-z

Internet

https://doi.org/10.1038/s41439-021-00143-z

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