Diagnostic DNA Testing for X-Linked Ocular Albinism (OA1) with a Hierarchical Mutation Screening Protocol
Author:
Affiliation:
1. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030
2. Department of Molecular and Human Genetics and Department of Ophthalmology, Baylor College of Medicine, Houston, TX 77030
Publisher
Mary Ann Liebert Inc
Subject
Genetics (clinical)
Link
http://www.liebertpub.com/doi/pdf/10.1089/109065702760093852
Reference25 articles.
1. Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome
2. X-Linked Late-Onset Sensorineural Deafness Caused by a Deletion Involving OA1 and a Novel Gene Containing WD-40 Repeats
3. Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America
4. Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction
5. Localization of the X-linked ocular albinism gene (OA1) between DXS278/DXS237 and DXS143/DXS16 by linkage analysis
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2. Retinal mosaicism in a girl with an X–Y translocation;British Journal of Ophthalmology;2012-11-02
3. GPR143 Mutational Analysis in Two Italian Families with X-Linked Ocular Albinism;Genetic Testing and Molecular Biomarkers;2009-08
4. Identification of a Novel Mutation in a Chinese Family with X-Linked Ocular Albinism;European Journal of Ophthalmology;2009-01
5. Phänotyp des visuellen Systems bei okulokutanem und okulärem Albinismus;Der Ophthalmologe;2007-08
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