Ocular albinism, type I

Known as: OA1, Nettleship-Falls type ocular albinism, Albinism, Ocular, Type I 
An X-linked inherited disorder caused by mutations in the GPR143 gene. It is characterized by reduced visual acuity and reduced stereoscopic vision… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1984-2017
0519842017

Papers overview

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2009
2009
OA1 (GPR143; GPCR, G-protein-coupled receptor), the protein product of the ocular albinism type 1 gene, encodes a pigment-cell… (More)
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2009
2009
Human pigmentation appears to be one of the main modulators of individual risk of developing malignant melanoma (MM). A large… (More)
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2008
2008
The protein product of the ocular albinism type 1 gene, named OA1, is a pigment cell-specific G protein-coupled receptor… (More)
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2005
2005
Objective: To assess the rate of cartilage loss, the change in bone marrow edema pattern and internal joint derangement at 1.5-T… (More)
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2004
2004
We report on the clinical and molecular findings in 25 males and three females with Kallmann syndrome (KS) aged 10-53 yr. Ten… (More)
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2000
2000
Ocular albinism type I (OA1) is an X-linked disorder characterized by severe reduction of visual acuity, strabismus, photophobia… (More)
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1999
1999
G protein-coupled receptors (GPCRs) participate in the most common signal transduction system at the plasma membrane. The wide… (More)
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1996
1996
Ocular albinism type 1 (OA1) is an inherited disorder characterized by severe reduction of visual acuity, photophobia, and… (More)
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1995
1995
Ocular albinism type 1 (OA1) is an X-linked disorder characterized by severe impairment of visual acuity, retinal… (More)
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1984
1984
A human X chromosome-derived gene sequence which recognises an abundant, 1.2-kb mRNA in several cell types was previously… (More)
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