Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America-Reference-Cited by-同舟云学术

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Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America

Published:2001-01-22 Issue:1 Volume:108 Page:51-54
ISSN:0340-6717
Container-title:Human Genetics
language:
Short-container-title:Human Genetics

Author:

Bassi M.,Bergen Arthur,Bitoun Pierre,Charles Stephen,Clementi Maurizio,Gosselin Richard,Hurst Jane,Lewis Richard,Lorenz Birgit,Meitinger Thomas,Messiaen Ludwine,Ramesar Rajkumar,Ballabio Andrea,Schiaffino M.

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s004390000440.pdf

Cited by 28 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. GPR143 genotypic and ocular phenotypic characterisation in a Chinese cohort with ocular albinism;Ophthalmic Genetics;2021-08-04

3. Identification of a novel GPR143 mutation in X-linked ocular albinism with marked intrafamilial phenotypic variability;Journal of Genetics;2018-11-22

4. DETAILED RETINAL IMAGING IN CARRIERS OF OCULAR ALBINISM;Retina;2018-03

5. GPR143 mutations in Chinese patients with ocular albinism type 1;Molecular Medicine Reports;2017-03-23

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