| http://purl.uniprot.org/citations/8617516 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8617516 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8617516 | http://www.w3.org/2000/01/rdf-schema#comment | "3-hydroxy-3-methylglutaryl CoA lyase (HL, EC 4.1.3.4) catalyzes the cleavage of 3-hydroxy-3-methylglutaryl CoA to acetoacetic acid and acetyl CoA, the final reaction of both ketogenesis and leucine catabolism. Autosomal-recessive HL deficiency in humans results in episodes of hypoketotic hypoglycemia and coma. Using a mouse HL cDNA as a probe, we isolated a clone containing the full-length mouse HL gene that spans about 15 kb of mouse chromosome 4 and contains nine exons. The promoter region of the mouse HL gene contains elements characteristic of a housekeeping gene: a CpG island containing multiple Sp1 binding sites surrounds exon 1, and neither a TATA nor a CAAT box are present. We identified multiple transcription start sites in the mouse HL gene, 35 to 9 bases upstream of the translation start codon. We also isolated two human HL genomic clones that include HL exons 2 to 9 within 18 kb. The mouse and human HL genes (HGMW-approved symbol HMGCL) are highly homologous, with identical locations of intron-exon junctions. By genomic Southern blot analysis and exonic PCR, we found 2 of 33 HL-deficient probands to be homozygous for large deletions in the HL gene."xsd:string |
| http://purl.uniprot.org/citations/8617516 | http://purl.org/dc/terms/identifier | "doi:10.1006/geno.1996.0164"xsd:string |
| http://purl.uniprot.org/citations/8617516 | http://purl.org/dc/terms/identifier | "doi:10.1006/geno.1996.0164"xsd:string |
| http://purl.uniprot.org/citations/8617516 | http://purl.uniprot.org/core/author | "Wang S.P."xsd:string |
| http://purl.uniprot.org/citations/8617516 | http://purl.uniprot.org/core/author | "Wang S.P."xsd:string |
| http://purl.uniprot.org/citations/8617516 | http://purl.uniprot.org/core/author | "Wanders R.J.A."xsd:string |
| http://purl.uniprot.org/citations/8617516 | http://purl.uniprot.org/core/author | "Wanders R.J.A."xsd:string |
| http://purl.uniprot.org/citations/8617516 | http://purl.uniprot.org/core/author | "Gibson K.M."xsd:string |
| http://purl.uniprot.org/citations/8617516 | http://purl.uniprot.org/core/author | "Gibson K.M."xsd:string |
| http://purl.uniprot.org/citations/8617516 | http://purl.uniprot.org/core/author | "Mitchell G.A."xsd:string |
| http://purl.uniprot.org/citations/8617516 | http://purl.uniprot.org/core/author | "Mitchell G.A."xsd:string |
| http://purl.uniprot.org/citations/8617516 | http://purl.uniprot.org/core/author | "Robert M.-F."xsd:string |
| http://purl.uniprot.org/citations/8617516 | http://purl.uniprot.org/core/author | "Robert M.-F."xsd:string |
| http://purl.uniprot.org/citations/8617516 | http://purl.uniprot.org/core/date | "1996"xsd:gYear |
| http://purl.uniprot.org/citations/8617516 | http://purl.uniprot.org/core/date | "1996"xsd:gYear |
| http://purl.uniprot.org/citations/8617516 | http://purl.uniprot.org/core/name | "Genomics"xsd:string |
| http://purl.uniprot.org/citations/8617516 | http://purl.uniprot.org/core/name | "Genomics"xsd:string |
| http://purl.uniprot.org/citations/8617516 | http://purl.uniprot.org/core/pages | "99-104"xsd:string |
| http://purl.uniprot.org/citations/8617516 | http://purl.uniprot.org/core/pages | "99-104"xsd:string |
| http://purl.uniprot.org/citations/8617516 | http://purl.uniprot.org/core/title | "3-hydroxy-3-methylglutaryl CoA lyase (HL): mouse and human HL gene (HMGCL) cloning and detection of large gene deletions in two unrelated HL-deficient patients."xsd:string |
| http://purl.uniprot.org/citations/8617516 | http://purl.uniprot.org/core/title | "3-hydroxy-3-methylglutaryl CoA lyase (HL): mouse and human HL gene (HMGCL) cloning and detection of large gene deletions in two unrelated HL-deficient patients."xsd:string |
| http://purl.uniprot.org/citations/8617516 | http://purl.uniprot.org/core/volume | "33"xsd:string |
| http://purl.uniprot.org/citations/8617516 | http://purl.uniprot.org/core/volume | "33"xsd:string |