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Oculocutaneous albinism type 2

Known as: OCULOCUTANEOUS ALBINISM, TYROSINASE-POSITIVE, ALBINISM, OCULOCUTANEOUS, TYPE II, OCA2 
 
National Institutes of Health

Papers overview

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2010
2010
  • Aihua Wei, Yu Wang, +8 authors Wei Li
  • The Journal of investigative dermatology
  • 2010
  • Corpus ID: 28385639
Oculocutaneous albinism (OCA) is a heterogeneous recessive disorder with hypopigmentation in the skin, hair, and eyes. At least… Expand
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Highly Cited
2008
Highly Cited
2008
Oculocutaneous albinism (OCA) is a genetically heterogeneous group of disorders characterized by absent or reduced pigmentation… Expand
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Review
2007
Review
2007
Oculocutaneous albinism (OCA) is a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction… Expand
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Highly Cited
2003
Highly Cited
2003
Ancestry informative markers (AIMs) are genetic loci showing alleles with large frequency differences between populations. AIMs… Expand
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Highly Cited
2003
Highly Cited
2003
The relationships between MC1R gene variants and red hair, skin reflectance, degree of freckling and nevus count were… Expand
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2003
2003
The heterogeneous group of disorders known as oculocutaneous albinism (OCA) shares cutaneous and ocular hypopigmentation… Expand
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Highly Cited
2001
Highly Cited
2001
Oculocutaneous albinism (OCA) affects approximately 1/20,000 people worldwide. All forms of OCA exhibit generalized… Expand
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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… Expand
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Highly Cited
1994
Highly Cited
1994
Oculocutaneous albinism (OCA) is a genetically heterogeneous hypopigmentation disorder. One of the two major autosomal recessive… Expand
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1994
1994
Type II (tyrosinase-positive) oculocutaneous albinism (OCA2) is an autosomal recessive disorder in which the biosynthesis of… Expand
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