A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration

PURPOSE: To investigate the genetic basis of autosomal recessive retinal degeneration in a large consanguineous family from Pakistan. METHODS: Ophthalmic examinations were conducted on family members to establish their diagnosis. Genomic DNA extracted from peripheral blood was used for homozygosity...

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Autors principals: Ali, Manir, Ramprasad, Vedam Lakshmi, Soumittra, Nagasamy, Mohamed, Moin D., Jafri, Hussain, Rashid, Yasmin, Danciger, Michael, McKibbin, Martin, Kumaramanickavel, Govindasamy, Inglehearn, Chris F.
Format: Artigo
Idioma:Inglês
Publicat: Molecular Vision 2008
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Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2576480/
https://ncbi.nlm.nih.gov/pubmed/18978954
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