Comprehensive analysis of the molecular basis of oculocutaneous albinism in Indian patients lacking a mutation in the tyrosinase gene
Author:
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2133.2010.09830.x/fullpdf
Reference23 articles.
1. Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type;Hutton;J Invest Dermatol,2008
2. Molecular bases of congenital hypopigmentary disorders in humans and oculocutaneous albinism 1 in Japan;Tomita;Pigment Cell Res,2000
3. Higher prevalence of OCA1 in an ethnic group of eastern India is due to a founder mutation in the tyrosinase gene;Chaki;Mol Vis,2005
4. OCA1 in different ethnic groups of India is primarily due to founder mutations in the tyrosinase gene;Chaki;Ann Hum Genet,2006
5. Oculocutaneous albinism among schoolchildren in Harare, Zimbabwe;Kagoere;Med Genet,1995
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2. The molecular landscape of oculocutaneous albinism in India and its therapeutic implications;European Journal of Human Genetics;2023-11-30
3. NGS-based targeted sequencing identified two novel variants in Southwestern Chinese families with oculocutaneous albinism;BMC Genomics;2022-04-29
4. Delineating Novel and Known Pathogenic Variants in TYR, OCA2 and HPS-1 Genes in Eight Oculocutaneous Albinism (OCA) Pakistani Families;Genes;2022-03-12
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