A Nonsense Mutation in a Novel Gene Is Associated With Retinitis Pigmentosa in a Family Linked to the RP1 Locus-Reference-Cited by-同舟云学术

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A Nonsense Mutation in a Novel Gene Is Associated With Retinitis Pigmentosa in a Family Linked to the RP1 Locus

Published:1999-08-01 Issue:8 Volume:8 Page:1541-1546
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:Human Molecular Genetics

Author:

Guillonneau X.,Piriev N. I.,Danciger M.,Kozak C. A.,Cideciyan A. V.,Jacobson S. G.,Farber D. B.

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/8/8/1541/1658054/8-8-1541.pdf

Reference34 articles.

1. Identification of genes causing photoreceptor degenerations leading to blindness

2. Retinitis Pigmentosa

3. Molecular genetics of human retinal dystrophies

4. Isolation of a candidate cDNA for the gene causing retinal degeneration in the rd mouse.

5. Retinal degeneration in the rd mouse is caused by a defect in the β subunit of rod cGMP-phosphodiesterase

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1. Retinitis pigmentosa‐1 due to an RP1 mutation in a consanguineous Iranian family: Report of a novel mutation;Clinical Case Reports;2024-03

2. Photoreceptor function and structure in retinal degenerations caused by biallelic BEST1 mutations;Vision Research;2023-02

3. Inherited retinal dystrophies in a Kuwaiti tribe;Ophthalmic Genetics;2022-03-10

4. Genotype-Phenotype Correlations in RP1-Associated Retinal Dystrophies: A Multi-Center Cohort Study in JAPAN;Journal of Clinical Medicine;2021-05-24

5. Dominant RP in the Middle While Recessive in Both the N- and C-Terminals Due to RP1 Truncations: Confirmation, Refinement, and Questions;Frontiers in Cell and Developmental Biology;2021-02-19

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