Associated Papers
The molecular landscape of oculocutaneous albinism in India and its therapeutic implications.
Kohli S et al.
European Journal of Human Genetics : Ejhg, 2024
Identifying genetic defects in oculocutaneous albinism patients of West Bengal, Eastern India.
Dutta T et al.
Molecular Biology Reports, 2024
Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review.
Ullah MI
Genes, 2022
Genetic Causes of Oculocutaneous Albinism in Pakistani Population.
Sajid Z et al.
Genes, 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
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
Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1).
Ghodsinejad Kalahroudi V et al.
Plos One, 2014
Molecular and functional studies of tyrosinase variants among Indian oculocutaneous albinism type 1 patients.
Chaki M et al.
The Journal of Investigative Dermatology, 2011
Five novel mutations in tyrosinase gene of Japanese and Indian patients with oculocutaneous albinism type I (OCA1).
Miyamura Y et al.
The Journal of Investigative Dermatology, 2005
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