Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism-Reference-Cited by-同舟云学术

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Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism

Published:1995 Issue:12 Volume:4 Page:2319-2325
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:Hum Mol Genet

Author:

Schiaffino M.Vittoria,Bassi Maria T.,Galli Lucia,Renieri Alessandra,Bruttini Mirella,Nigris Filomena De,Bergen Arthur A.B.,Charles Stephen J.,Yates John R.W.,Meindl Alfons,Lewis Richard A.,King Richard A.,Ballabio Andrea

Publisher

Oxford University Press (OUP)

Subject

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

Link

http://academic.oup.com/hmg/article-pdf/4/12/2319/1774374/4-12-2319.pdf

Cited by 73 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Mutation of GPR143 Associated With Ocular Albinism Type 1, Intellectual Disability, and Schizophrenia: The Complex Biological and Social Interactions Between Genetic Syndromes and Mental Illness;Journal of Psychiatric Practice;2023-01

2. CRISPR-AsCas12a Efficiently Corrects a GPR143 Intronic Mutation in Induced Pluripotent Stem Cells from an Ocular Albinism Patient;The CRISPR Journal;2022-06-01

3. Abnormal foveal morphology in carriers of oculocutaneous albinism;British Journal of Ophthalmology;2022-04-04

4. GPR143 genotypic and ocular phenotypic characterisation in a Chinese cohort with ocular albinism;Ophthalmic Genetics;2021-08-04

5. Neurodevelopmental Profile in Children Affected by Ocular Albinism;Neuropediatrics;2021-07-29

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