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
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
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
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