Skip to search formSkip to main contentSkip to account menu

Oculocutaneous albinism type 1

Known as: OCA1, Oculocutaneous albinism type 1A, Oculocutaneous Albinism, Type I 
National Institutes of Health

Related topics

Related topics

10 relations

Broader (2)

AlbinismAlbinism, Oculocutaneous
Autosomal recessive inheritanceCatechol OxidaseNystagmusPhotophobia

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2005
2005
Molecular basis of oculocutaneous albinism type 1 in Lebanese patients
AbstractOculocutaneous albinism type 1 (OCA1) results from mutations in the tyrosinase gene, which lead to partial or complete… 
2004
2004
Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism
Oculocutaneous albinism (OCA) in man may be caused by mutations within the tyrosinase gene (TYR) resulting in OCA1. Analysing… 
2004
2004
A transgenic mouse model with inducible Tyrosinase gene expression using the tetracycline (Tet-on) system allows regulated rescue of abnormal chiasmatic projections found in albinism.
Congenital defects in retinal pigmentation, as in oculocutaneous albinism Type I (OCA1), where tyrosinase is defective, result in… 
2004
2004
Genetic analysis of oculocutaneous albinism type 1 (OCA1) in Indian families: two novel frameshift mutations in the TYR Gene.
PURPOSE Oculocutaneous albinism type 1 (OCA1) patients demonstrate a partial or total lack of melanin in the skin, hair and eye… 
1997
1997
Temporal And Spatial Semantic Models For Multimedia Presentations
An abstract semantic model based on augmented transition network ATN to model multimedia pre sentations is presented in this… 
Review
1996
Review
1996
Characterization and genetic mapping of simple repeat sequences in the tomato genome
Tomato genomic libraries were screened for the presence of simple sequence repeats (SSRs) with seventeen synthetic… 
Highly Cited
1994
Highly Cited
1994
Delayed depolarization and slow sodium currents in cutaneous afferents.
1. Intraaxonal recordings were obtained in vitro from the sural nerve (SN), the muscle branch of the anterior tibial nerve (ATN… 
1994
1994
Posttransplant deaths and factors that influence the mortality rate in North American children.
Of 2457 patients in the North American Pediatric Renal Transplant Cooperative Study registry who were followed for 5481 patient… 
1987
1987
Acute tubular necrosis: use of gadolinium-DTPA and fast MR imaging to evaluate renal function in the rabbit.
Sequential fast magnetic resonance (MR) images (repetition time = 33 ms, echo time = 7 ms, alpha = 22 degrees, one image every 12… 
Highly Cited
1980
Highly Cited
1980
The ATN and the sausage machine: Which one is baloney?
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)