Associated Papers
The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.
Michaud V et al.
Nature Communications, 2022
35803923 (PubMed )
Supplement: 41467_2022_31392_MOESM4_ESM.xlsx › Supplementary-Table_1
Genetic analysis and prenatal diagnosis of 20 Chinese families with oculocutaneous albinism.
Xu C et al.
Journal of Clinical Laboratory Analysis, 2021
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
Dynamic analysis of human tyrosinase intra-melanosomal domain and mutant variants to further understand oculocutaneous albinism type 1.
Farney SK et al.
Journal of Analytical & Pharmaceutical Research, 2018
Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1).
Ghodsinejad Kalahroudi V et al.
Plos One, 2014
A novel mutation (delAACT) in the tyrosinase gene in a Cameroonian black with type 1A oculocutaneous albinism.
Badens C et al.
Journal of Dermatological Science, 2006
Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype.
King RA et al.
Human Genetics, 2003
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