Associated Papers
TYR mutation in a Chinese population with oculocutaneous albinism: Molecular characteristics and ophthalmic manifestations.
Chen C et al.
Experimental Eye Research, 2024
Computational analysis of the deleterious non-synonymous single nucleotide polymorphisms (nsSNPs) in TYR gene impacting human tyrosinase protein and the protein stability.
Fan W et al.
Plos One, 2024
NGS-based targeted sequencing identified two novel variants in Southwestern Chinese families with oculocutaneous albinism.
Xiao Y et al.
Bmc Genomics, 2022
Identification of 12 OCA Cases in Chinese Population and Two Novel Variants.
Zhong Z et al.
Frontiers in Genetics, 2022
35923705 (PubMed )
Supplement: DataSheet1.docx
Identification and Computational Analysis of Novel TYR and SLC45A2 Gene Mutations in Pakistani Families With Identical Non-syndromic Oculocutaneous Albinism.
Bibi N et al.
Frontiers in Genetics, 2020
32849781 (PubMed )
Supplement: Data_Sheet_2.docx
Functional in silico analysis of human tyrosinase and OCA1 associated mutations.
Patel M et al.
Journal of Analytical & Pharmaceutical Research, 2020
Comprehensive analysis of spectral distribution of a large cohort of Chinese patients with non-syndromic oculocutaneous albinism facilitates genetic diagnosis.
Zhong Z et al.
Pigment Cell & Melanoma Research, 2019
Functional assessment of tyrosinase variants identified in individuals with albinism is essential for unequivocal determination of genotype-to-phenotype correlation.
Mondal M et al.
The British Journal of Dermatology, 2016
Tyrosinase gene mutations in the Chinese Han population with OCA1.
Liu N et al.
Genetics Research, 2014
Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1).
Ghodsinejad Kalahroudi V et al.
Plos One, 2014
[Study of tyrosinase gene mutation in oculocutaneous albinism type 1 patients].
Zheng H et al.
Zhongguo Ying Yong Sheng Li Xue Za Zhi = Zhongguo Yingyong Shenglixue Zazhi = Chinese Journal of Applied Physiology, 2011
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