2017
DOI: 10.17582/journal.pjz/2017.49.6.2313.2317
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A Homozygous c.2536G-to-A Mutation in CRB1 Gene Manifesting Autosomal Recessive Retinitis Pigmentosa in a Large Consanguineous Kashmiri Family

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“…Leucine was replaced for a proline residue as a consequence of the cytosine to thymine transition in the RP1 gene analysis (c.3419C>T; p. P1035L), and glycine was used in place of valine in the CRB1 mutation research (c.1152T>G; p.V243G). In this study by Latif et al [ 21 ], 11 members of a large consanguineous family were selected from Azad Jammu and Kashmir, where they underwent linkage mapping analysis and Sanger sequencing confirmation. This family's non-syndromic autosomal recessive RP was caused by homozygous c.2536G>A mutations in the CRB1 gene.…”
Section: Discussionmentioning
confidence: 99%
“…Leucine was replaced for a proline residue as a consequence of the cytosine to thymine transition in the RP1 gene analysis (c.3419C>T; p. P1035L), and glycine was used in place of valine in the CRB1 mutation research (c.1152T>G; p.V243G). In this study by Latif et al [ 21 ], 11 members of a large consanguineous family were selected from Azad Jammu and Kashmir, where they underwent linkage mapping analysis and Sanger sequencing confirmation. This family's non-syndromic autosomal recessive RP was caused by homozygous c.2536G>A mutations in the CRB1 gene.…”
Section: Discussionmentioning
confidence: 99%