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ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)

Known as: YELLOW ALBINISM, ALBINISM, OCULOCUTANEOUS, TYPE IB, ALBINISM, YELLOW MUTANT TYPE 
National Institutes of Health

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Albinism, Oculocutaneous

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Application of multiplex ligation-dependent probe amplification in the genetic testing of oculocutaneous albinism
Department of Dermatology, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China; Shunyi Women and Children… 
Review
2016
Review
2016
Oculocutaneous Albinism Type 1 -- GeneReviews(®)
2014
2014
Visual Defect in Oculocutaneous Albinism is Not Associated with Gross Structural Anomaly
Background: Albinism is a heterogeneous group of inherited non progressive disorders of melanin metabolism. The two main types… 
2011
2011
Oculocutaneous Albinism Type 3 (OCA3): Analysis of Two Novel Mutations in TYRP1 Gene in Two Chinese Patients
Oculocutaneous albinism (OCA) is a genetic disease characterized by the reduction or deficiency of melanin in eyes, skin, and… 
2009
2009
A Case of Oculocutaneous Albinism Induced by Tyrosinase Mutation
Oculocutaneous albinism (OCA) is a group of inherited disorders of the melanin synthesizing system, and these are characterized… 
2004
2004
Oculocutaneous albinism and spurious pulse oximetry.
2000
2000
A Case of Oculocutaneous Albinism
1989
1989
Oculocutaneous albinism and schizophrenia-like psychosis.
1985
1985
Plasma 5-S-cysteinyldopa concentrations in oculocutaneous albinism.
5-S-cysteinyldopa concentrations were determined by high-pressure liquid chromatography and electrochemical detection in plasma… 
1980
1980
[Oculocutaneous albinism in Cameroun. About 216 cases (author's transl)].
Oculocutaneous albinism is a hereditary disease with a high incidence in Cameroon. The author has examined 216 cases. Most of… 
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