Linked Life Data

10960773

Source:http://linkedlifedata.com/resource/pubmed/id/10960773

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2000-9-19
pubmed:abstractText
Oculocutaneous albinism is an autosomal recessive genetic disorder. Several types of oculocutaneous albinism are caused by mutation in related genes. Oculocutaneous albinism 1 is associated with the tyrosinase gene. The human tyrosinase gene (TYR) encodes tyrosinase, a key enzyme in melanin biosynthesis. As exon 1 of the gene shows an MboI-RFLP within codon 192 in Caucasians, we studied allele frequencies of MboI 192 polymorphism in 200 chromosomes from 100 unrelated normal Korean individuals. As a result, only one allele system, the presence of the MboI 192 site, was detected in the Korean.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0923-1811
pubmed:author
pubmed:issnType
Print
pubmed:volume
24
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1-3
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
2000
pubmed:articleTitle
One-allele system in the Korean for MboI-RFLP in exon 1 of the human tyrosinase (TYR) gene.
pubmed:affiliation
Department of Anatomy, School of Medicine, Keimyung University, Dongsan-Dong, Jung-Gu, Taegu 700-712, South Korea. dkkim@dsmc.or.kr
pubmed:publicationType
Journal Article