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
The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism.
Green DJ et al.
Nature Communications, 2024
39349469 (PubMed )
Supplement: 41467_2024_52763_MOESM4_ESM.xlsx › supp_data_1
Novel compound heterozygous mutations in OCA2 gene were identified in a Chinese family with oculocutaneous albinism.
Jiang B et al.
Molecular Genetics & Genomic Medicine, 2024
37882226 (PubMed )
Supplement: MGG3-12-e2297-s002.xlsx › Supplementary_Table_2
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
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.
Lenassi E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
31848469 (PubMed )
Supplement: 41436_2019_722_MOESM1_ESM.pdf
Comprehensive analysis of the molecular basis of oculocutaneous albinism in Indian patients lacking a mutation in the tyrosinase gene.
Sengupta M et al.
The British Journal of Dermatology, 2010
Novel human pathological mutations. Gene symbol: OCA2. Disease: albinism, oculocutaneous II.
Ray K et al.
Human Genetics, 2010
Novel human pathological mutations. Gene symbol: OCA2. Disease: albinism, oculocutaneous II.
Renugadevi K et al.
Human Genetics, 2009
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
SLC45A2 variations in Indian oculocutaneous albinism patients.
Sengupta M et al.
Molecular Vision, 2007
P gene mutations associated with oculocutaneous albinism type II (OCA2).
Oetting WS et al.
Human Mutation, 2005
Select a paper to view details