Identification and characterization of two novel noncoding tyrosinase (TYR) gene variants leading to oculocutaneous albinism type 1
Author:
Funder
National Natural Science Foundation of China
Publisher
Elsevier BV
Subject
Cell Biology,Molecular Biology,Biochemistry
Reference47 articles.
1. Tyrosinase and ocular diseases: Some novel thoughts on the molecular basis of oculocutaneous albinism type 1;Ray;Prog. Retin. Eye Res.,2007
2. Oculocutaneous albinism;Gronskov;Orphanet J. Rare Dis.,2007
3. The phenotypic spectrum of albinism;Kruijt;Ophthalmology,2018
4. Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations;Yang;BMC Med. Genet.,2019
5. Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B);Norman;Sci. Rep.,2017
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