Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1991-3-4
pubmed:abstractText
We have identified a tyrosinase gene mutation in an American black with classic, tyrosinase-negative oculocutaneous albinism. This mutation results in an amino acid substitution (Cys----Arg) at codon 89 of the tyrosinase polypeptide. The proband is homozygous for the substitution, suggesting that this mutation may be frequently associated with tyrosinase-negative oculocutaneous albinism in blacks.
pubmed:grant
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/1899321-1195397, http://linkedlifedata.com/resource/pubmed/commentcorrection/1899321-13754937, http://linkedlifedata.com/resource/pubmed/commentcorrection/1899321-15403662, http://linkedlifedata.com/resource/pubmed/commentcorrection/1899321-1970634, http://linkedlifedata.com/resource/pubmed/commentcorrection/1899321-1971925, http://linkedlifedata.com/resource/pubmed/commentcorrection/1899321-1972982, http://linkedlifedata.com/resource/pubmed/commentcorrection/1899321-2110899, http://linkedlifedata.com/resource/pubmed/commentcorrection/1899321-2113511, http://linkedlifedata.com/resource/pubmed/commentcorrection/1899321-2147422, http://linkedlifedata.com/resource/pubmed/commentcorrection/1899321-2216804, http://linkedlifedata.com/resource/pubmed/commentcorrection/1899321-2342539, http://linkedlifedata.com/resource/pubmed/commentcorrection/1899321-2448875, http://linkedlifedata.com/resource/pubmed/commentcorrection/1899321-2511845, http://linkedlifedata.com/resource/pubmed/commentcorrection/1899321-271968, http://linkedlifedata.com/resource/pubmed/commentcorrection/1899321-2823263, http://linkedlifedata.com/resource/pubmed/commentcorrection/1899321-2898428, http://linkedlifedata.com/resource/pubmed/commentcorrection/1899321-2903492, http://linkedlifedata.com/resource/pubmed/commentcorrection/1899321-3141148, http://linkedlifedata.com/resource/pubmed/commentcorrection/1899321-3146546, http://linkedlifedata.com/resource/pubmed/commentcorrection/1899321-3192212, http://linkedlifedata.com/resource/pubmed/commentcorrection/1899321-3288382, http://linkedlifedata.com/resource/pubmed/commentcorrection/1899321-3458254, http://linkedlifedata.com/resource/pubmed/commentcorrection/1899321-6084979
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
0002-9297
pubmed:author
pubmed:issnType
Print
pubmed:volume
48
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
318-24
pubmed:dateRevised
2009-11-18
pubmed:meshHeading
pubmed:year
1991
pubmed:articleTitle
Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism.
pubmed:affiliation
Department of Medical Genetics, University of Wisconsin-Madison.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't