Mutation analysis of codons 345 and 347 of rhodopsin gene in Indian retinitis pigmentosa patients (Q77810067)

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8 December 2019

title

Mutation analysis of codons 345 and 347 of rhodopsin gene in Indian retinitis pigmentosa patients (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11910130%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

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M Dikshit

1

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8 December 2019

R Agarwal

series ordinal

2

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8 December 2019

publication date

1 August 2001

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8 December 2019

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8 December 2019

volume

80

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8 December 2019

issue

2

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8 December 2019

page(s)

111-116

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https://scigraph.springernature.com/pub.10.1007/bf02728336

8 December 2019

exact match

0 references

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Autosomal dominant retinitis pigmentosa: absence of the rhodopsin proline----histidine substitution (codon 23) in pedigrees from Europe

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Further screening of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa

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Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa

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A rapid procedure for extracting genomic DNA from leukocytes

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Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa

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Ocular findings in patients with autosomal dominant retinitis pigmentosa and rhodopsin, proline-347-leucine

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A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa

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Dominant retinitis pigmentosa associated with two rhodopsin gene mutations. Leu-40-Arg and an insertion disrupting the 5'-splice junction of exon 5.

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Diffuse loss of rod function in autosomal dominant retinitis pigmentosa with pro-347-leu mutation of rhodopsin.

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A large deletion at the 3' end of the rhodopsin gene in an Italian family with a diffuse form of autosomal dominant retinitis pigmentosa

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Retinal genetics: a nullifying effect for rhodopsin

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Evaluation of patients with retinitis pigmentosa receiving electric stimulation, ozonated blood, and ocular surgery in Cuba

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Clinical and ERG data in a family with autosomal dominant RP and Pro-347-Arg mutation in the rhodopsin gene

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12 December 2020

Molecular Analysis and Genetic Mapping of the Rhodopsin Gene in Families with Autosomal Dominant Retinitis Pigmentosa

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12 December 2020

Ocular findings in patients with autosomal dominant retinitis pigmentosa and Cys110Phe, Arg135Gly, and Gln344stop mutations of rhodopsin

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Deletions in exon 5 of the human rhodopsin gene causing a shift in the reading frame and autosomal dominant retinitis pigmentosa

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A photoreceptor gene mutation in an indigenous black African family with retinitis pigmentosa identified using a rapid screening approach for common rhodopsin mutations.

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Point mutations of rhodopsin gene found in Japanese families with autosomal dominant retinitis pigmentosa (ADRP)

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Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa

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12 December 2020

Rhodopsin mutation proline347-to-alanine in a family with autosomal dominant retinitis pigmentosa indicates an important role for proline at position 347

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12 December 2020

Retinitis pigmentosa genetics: a study in Indian population

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12 December 2020

Transgenic mice carrying the dominant rhodopsin mutation P347S: evidence for defective vectorial transport of rhodopsin to the outer segments

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Molecular genetic study of autosomal dominant retinitis pigmentosa in Lithuanian patients

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[A molecular biological study on retinitis pigmentosa]

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Defective intracellular transport is the molecular basis of rhodopsin-dependent dominant retinal degeneration

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12 December 2020

Analysis of rhodopsin gene in patients with retinitis pigmentosa using allele-specific polymerase chain reaction

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12 December 2020