Associated Papers
Common Variants in the TYR Gene with Unclear Pathogenicity as the Cause of Oculocutaneous Albinism in a Cohort of Russian Patients.
Shchagina O et al.
Biomedicines, 2024
39457547 (PubMed )
Supplement: biomedicines-12-02234-s001.zip › biomedicines-3154718-supplementary.pdf
A patient with albinism and retinitis pigmentosa, a case report.
Georgiou M et al.
American Journal of Ophthalmology Case Reports, 2024
Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program.
Montano C et al.
Journal of Inherited Metabolic Disease, 2022
A study of elective genome sequencing and pharmacogenetic testing in an unselected population.
Cochran M et al.
Molecular Genetics & Genomic Medicine, 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
Delineating the genetic heterogeneity of OCA in Hungarian patients.
Fábos B et al.
European Journal of Medical Research, 2017
Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W.
Gao J et al.
Cell & Bioscience, 2017
Assessment of tyrosinase variants and skin cancer risk in a large cohort of French subjects.
Hu HH et al.
Journal of Dermatological Science, 2011
The tyrosinase gene and oculocutaneous albinism type 1 (OCA1): A model for understanding the molecular biology of melanin formation.
Oetting WS
Pigment Cell Research, 2000
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