Oculocutaneous albinism type 2

Known as: Oculocutaneous Albinism, Tyrosinase-Positive, Albinism, Oculocutaneous, Type II, OCA2 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1955-2018
02419552017

Papers overview

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2011
2011
X-chromosome inactivation (XCI) is an essential mechanism in females that compensates for the genome imbalance between females… (More)
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2007
2007
AbstractIn this study, we report on a Cameroonian family from the Ewondo ethnic group, presenting with three oculocutaneous… (More)
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2006
2006
The processing and trafficking of tyrosinase, a melanosomal protein essential for pigmentation, was investigated in a human… (More)
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2003
2003
The heterogeneous group of disorders known as oculocutaneous albinism (OCA) shares cutaneous and ocular hypopigmentation… (More)
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Review
2001
Review
2001
Recessive mutations of the mouse p (pink-eyed dilution) gene lead to hypopigmentation of the eyes, skin, and fur. Mice lacking a… (More)
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2000
2000
Oculocutaneous albinism (OCA) is an autosomal recessive disorder in which the biosynthesis of melanin is reduced or absent in… (More)
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1997
1997
Hermansky-Pudlak syndrome (HPS) consists of ocu-locutaneous albinism, a platelet storage-pool deficiency, and ceroid… (More)
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Review
1996
Review
1996
Oculocutaneous albinism represents a group of inherited skin disorders characterized by a generalized reduction of cutaneous… (More)
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1990
1990
We have identified a tyrosinase gene mutation in several patients with classic, tyrosinase-negative (type IA) oculocutaneous… (More)
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1982
1982
Nine patients with Prader-Willi syndrome (five female and four male; one Oriental and eight white), all of whom had interstitial… (More)
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