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| pubmed-article:7842009 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:7842009 | lifeskim:mentions | umls-concept:C0006556 | lld:lifeskim |
| pubmed-article:7842009 | lifeskim:mentions | umls-concept:C0204727 | lld:lifeskim |
| pubmed-article:7842009 | lifeskim:mentions | umls-concept:C0205409 | lld:lifeskim |
| pubmed-article:7842009 | lifeskim:mentions | umls-concept:C1415593 | lld:lifeskim |
| pubmed-article:7842009 | lifeskim:mentions | umls-concept:C1880022 | lld:lifeskim |
| pubmed-article:7842009 | pubmed:issue | 2 | lld:pubmed |
| pubmed-article:7842009 | pubmed:dateCreated | 1995-3-9 | lld:pubmed |
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| pubmed-article:7842009 | pubmed:abstractText | Holocarboxylase synthetase (HCS) plays an essential role in biotin utilization in eukaryotic cells and its deficiency causes biotin-responsive multiple carboxylase deficiency in humans. We have cloned the human HCS cDNA and show that antiserum against the recombinant protein immunoprecipitates human HCS. A one base deletion resulting in a premature termination and a missense mutation (Leu to Pro) were found in cells from siblings with HCS deficiency. Human HCS shows homology to BirA, which acts as both a biotin-[acetyl-CoA-carboxylase] ligase and a biotin repressor in E. coli, suggesting a functional relationship between the two proteins. The human HCS gene maps to chromosome 21q22.1. | lld:pubmed |
| pubmed-article:7842009 | pubmed:language | eng | lld:pubmed |
| pubmed-article:7842009 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7842009 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:7842009 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7842009 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:7842009 | pubmed:month | Oct | lld:pubmed |
| pubmed-article:7842009 | pubmed:issn | 1061-4036 | lld:pubmed |
| pubmed-article:7842009 | pubmed:author | pubmed-author:SuzukiYY | lld:pubmed |
| pubmed-article:7842009 | pubmed:author | pubmed-author:IshidaYY | lld:pubmed |
| pubmed-article:7842009 | pubmed:author | pubmed-author:AokiYY | lld:pubmed |
| pubmed-article:7842009 | pubmed:author | pubmed-author:NarisawaKK | lld:pubmed |
| pubmed-article:7842009 | pubmed:author | pubmed-author:ChibaYY | lld:pubmed |
| pubmed-article:7842009 | pubmed:author | pubmed-author:NiikawaNN | lld:pubmed |
| pubmed-article:7842009 | pubmed:author | pubmed-author:MatsubaraYY | lld:pubmed |
| pubmed-article:7842009 | pubmed:author | pubmed-author:IwamatsuAA | lld:pubmed |
| pubmed-article:7842009 | pubmed:author | pubmed-author:KishinoTT | lld:pubmed |
| pubmed-article:7842009 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:7842009 | pubmed:volume | 8 | lld:pubmed |
| pubmed-article:7842009 | pubmed:geneSymbol | birA | lld:pubmed |
| pubmed-article:7842009 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:7842009 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:7842009 | pubmed:pagination | 122-8 | lld:pubmed |
| pubmed-article:7842009 | pubmed:dateRevised | 2006-11-15 | lld:pubmed |
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| pubmed-article:7842009 | pubmed:year | 1994 | lld:pubmed |
| pubmed-article:7842009 | pubmed:articleTitle | Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA. | lld:pubmed |
| pubmed-article:7842009 | pubmed:affiliation | Department of Biomedical Genetics, Tohoku University School of Medicine, Sendai, Japan. | lld:pubmed |
| pubmed-article:7842009 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:7842009 | pubmed:publicationType | Comparative Study | lld:pubmed |
| pubmed-article:7842009 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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