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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
3
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pubmed:dateCreated |
1991-4-10
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pubmed:abstractText |
Type I oculocutaneous albinism (OCA) is an autosomal recessive disorder in which deficient synthesis of melanin pigment results from abnormal activity of melanocyte tyrosinase. A novel type I OCA phenotype in which hypopigmentation is related to local body temperature is associated with a missense substitution in tyrosinase, codon 422 CGG (Arg)----CAG (Gln). This substitution results in a tyrosinase polypeptide that is temperature-sensitive. This form of type I OCA thus is homologous to the temperature-related forms of albinism seen in the Siamese cat and the Himalayan mouse.
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pubmed:grant |
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/1900309-1899321,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1900309-1903356,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1900309-1970634,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1900309-1971925,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1900309-2113511,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1900309-2118627,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1900309-2342539,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1900309-2448875,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1900309-2480811,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1900309-2499655,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1900309-2511845,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1900309-2567165,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1900309-271968,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1900309-3137928,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1900309-3140237,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1900309-3288382,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1900309-3344219,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1900309-603028,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1900309-6785376,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1900309-6799584,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1900309-6960240
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Mar
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pubmed:issn |
0021-9738
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
87
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1119-22
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:1900309-Adult,
pubmed-meshheading:1900309-Albinism, Oculocutaneous,
pubmed-meshheading:1900309-Amino Acid Sequence,
pubmed-meshheading:1900309-Base Sequence,
pubmed-meshheading:1900309-Female,
pubmed-meshheading:1900309-Genes,
pubmed-meshheading:1900309-Humans,
pubmed-meshheading:1900309-Molecular Sequence Data,
pubmed-meshheading:1900309-Monophenol Monooxygenase,
pubmed-meshheading:1900309-Mutation,
pubmed-meshheading:1900309-Pedigree,
pubmed-meshheading:1900309-Polymerase Chain Reaction,
pubmed-meshheading:1900309-Structure-Activity Relationship,
pubmed-meshheading:1900309-Temperature
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pubmed:year |
1991
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pubmed:articleTitle |
A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse.
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pubmed:affiliation |
Department of Medical Genetics, University of Wisconsin, Madison 53706.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Case Reports,
Research Support, Non-U.S. Gov't
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