Oculocutaneous Albinism Type 3
What's New
Last Posted: Jun 24, 2023
- Haplotype-based analysis resolves missing heritability in oculocutaneous albinism type 1B.
Stacie K Loftus, et al. American journal of human genetics 2023 0 - SLC45A2 protein stability and regulation of melanosome pH determine melanocyte pigmentation.
Le Linh, et al. Molecular biology of the cell 2020 0 (24) 2687-2702 - [Non-invasive prenatal detection of ocutaneous albinism type I based on cfDNA barcode-enabled single-molecule test].
Wang Conghui, et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021 0 (4) 317-320 - Genetic analysis of oculocutaneous albinism type 1 (OCA1) in Indian families: two novel frameshift mutations in the TYR Gene.
Sundaresan Periasamy, et al. Molecular vision 2005 0 1005-10 - Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4.
Rundshagen Uta, et al. Human mutation 2004 0 (2) 106-110 - Identification of two Chinese oculocutaneous albinism type 6 patients and mutation updates of the SLC24A5 gene.
Zhang Yunlan, et al. The Journal of dermatology 2019 9 - A comprehensive study of oculocutaneous albinism type 1 reveals three previously unidentified alleles on the TYR gene.
Lin Yu-Ying, et al. European journal of dermatology : EJD 0 0 (2) 168-73 - Albinism and disease causing pathogens in Tanzania: are alleles that are associated with OCA2 being maintained by balancing selection?
Tuli Abbas M, et al. Medical hypotheses 2012 12 (6) 875-8 - A global view of the OCA2-HERC2 region and pigmentation.
Donnelly Michael P, et al. Human genetics 2012 5 (5) 683-96 - Distribution of OCA2*481Thr and OCA2*615Arg, associated with hypopigmentation, in several additional populations.
Yuasa Isao, et al. Legal medicine (Tokyo, Japan) 2011 7 (4) 215-7 - Oculocutaneous albinism type 1
From NCATS Genetic and Rare Diseases Information Center - Oculocutaneous albinism type 1B
From NCATS Genetic and Rare Diseases Information Center - Oculocutaneous albinism type 2
From NCATS Genetic and Rare Diseases Information Center - Oculocutaneous albinism type 3
From NCATS Genetic and Rare Diseases Information Center - Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma.
Duffy David L, et al. The Journal of investigative dermatology 2010 2 (2) 520-8 - Linkage and association analysis of spectrophotometrically quantified hair color in Australian adolescents: the effect of OCA2 and HERC2.
Shekar Sri N, et al. The Journal of investigative dermatology 2008 12 (12) 2807-14 - Distribution of two Asian-related coding SNPs in the MC1R and OCA2 genes.
Yuasa I, et al. Biochemical genetics 2007 8 (7-8) 535-42 - OCA2 481Thr, a hypofunctional allele in pigmentation, is characteristic of northeastern Asian populations.
Yuasa Isao, et al. Journal of human genetics 2007 0 (8) 690-3 - Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico.
Santiago Borrero Pedro J, et al. The Journal of investigative dermatology 2006 1 (1) 85-90 - Promoter polymorphisms in the MATP (SLC45A2) gene are associated with normal human skin color variation.
Graf Justin, et al. Human mutation 2007 7 (7) 710-7
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Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
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