Associated Papers
Genetic Diagnosis of Oculocutaneous Albinism Type 1A: A Novel TYR Variant.
Shihab RN et al.
Clinical Case Reports, 2025
Bioinformatics Study on Site-Specific Variations of Eotaxin-3, a Key Chemokine in Eosinophilic Esophagitis (EoE).
Giordano D et al.
Genes, 2024
39202432 (PubMed )
Supplement: genes-15-01073-s001.zip › Supplementary_Table_S1.pdf
Abnormal foveal morphology in carriers of oculocutaneous albinism.
Kuht HJ et al.
The British Journal of Ophthalmology, 2023
35379600 (PubMed )
Supplement: bjophthalmol-2020-318192supp001.pdf
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM23_ESM.xlsx › Supplementary_Data_20
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
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
Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1).
Ghodsinejad Kalahroudi V et al.
Plos One, 2014
Mutational analysis of TYR gene and its structural consequences in OCA1A.
K B et al.
Gene, 2013
Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.
Hutton SM et al.
The Journal of Investigative Dermatology, 2008
Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype.
King RA et al.
Human Genetics, 2003
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
Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism.
Oetting WS et al.
Human Mutation, 1999
Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1).
Spritz RA et al.
Human Mutation, 1997
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