Linked Life Data

8587199

Source:http://linkedlifedata.com/resource/pubmed/id/8587199

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1996-3-27
pubmed:abstractText
Holocarboxylase synthetase (HCS) plays an essential role in biotin utilization in cells and its deficiency causes biotin-responsive multiple carboxylase deficiency in humans. We have cloned the human HCS cDNA, which maps to chromosome 21q22.1. Two mutations in the HCS genes of Japanese patients with HCS deficiency have been identified: a transition from T to C which causes an amino acid substitution of proline for leucine at position 237 (L237P) and A single guanine base deletion (delta G1067) followed by premature termination. Transient expression in cultured fibroblasts from a patient after site-directed mutagenesis showed that the L237P mutation was responsible for decreased HCS activity. Hybridization analysis using allele-specific oligonucleotide probes demonstrated that the prevalence of the mutations--L237P and delta G1067--was 50% and 30%, respectively, among Japanese patients with HCS deficiency.
pubmed:language
jpn
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
0047-1852
pubmed:author
pubmed:issnType
Print
pubmed:volume
54
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
259-67
pubmed:dateRevised
2011-7-27
pubmed:meshHeading
pubmed:year
1996
pubmed:articleTitle
[Cloning of the holocarboxylase synthetase cDNA and identification of mutations prevalent in Japanese HCS-deficient patients].
pubmed:affiliation
Department of Biochemical Genetics, Tohoku University School of Medicine.
pubmed:publicationType
Journal Article, English Abstract, Review, Case Reports