| http://purl.uniprot.org/citations/8297359 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8297359 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8297359 | http://www.w3.org/2000/01/rdf-schema#comment | "Human galactocerebrosidase, the enzyme deficient in Krabbe disease, was purified, through several hydrophobic column steps and gel filtration, 22,650-fold from human lymphocytes. Using information on its N-terminal and internal amino acid sequences, and the polymerase chain reaction method, we cloned a full-length cDNA for the enzyme. The deduced amino acid sequence matched all amino acid sequences determined. The 3780 nucleotide sequence included 2007 nucleotides which encoded a single chain peptide of 669 amino acid residues with a 26 amino acid N-terminal signal peptide and six potential asparagine-linked glycosylation sites. The galactocerebrosidase cDNA detected an about 4 kb mRNA band material in human cultured skin fibroblasts. A nonsense mutation was found at codon 369 (GAA-->TAA) in the coding sequence of cDNA amplified from cultured skin fibroblast mRNA from a patient with typical Krabbe disease."xsd:string |
| http://purl.uniprot.org/citations/8297359 | http://purl.org/dc/terms/identifier | "doi:10.1006/bbrc.1994.1071"xsd:string |
| http://purl.uniprot.org/citations/8297359 | http://purl.org/dc/terms/identifier | "doi:10.1006/bbrc.1994.1071"xsd:string |
| http://purl.uniprot.org/citations/8297359 | http://purl.uniprot.org/core/author | "Fujii N."xsd:string |
| http://purl.uniprot.org/citations/8297359 | http://purl.uniprot.org/core/author | "Fujii N."xsd:string |
| http://purl.uniprot.org/citations/8297359 | http://purl.uniprot.org/core/author | "Iwamatsu A."xsd:string |
| http://purl.uniprot.org/citations/8297359 | http://purl.uniprot.org/core/author | "Iwamatsu A."xsd:string |
| http://purl.uniprot.org/citations/8297359 | http://purl.uniprot.org/core/author | "Inui K."xsd:string |
| http://purl.uniprot.org/citations/8297359 | http://purl.uniprot.org/core/author | "Inui K."xsd:string |
| http://purl.uniprot.org/citations/8297359 | http://purl.uniprot.org/core/author | "Okada S."xsd:string |
| http://purl.uniprot.org/citations/8297359 | http://purl.uniprot.org/core/author | "Okada S."xsd:string |
| http://purl.uniprot.org/citations/8297359 | http://purl.uniprot.org/core/author | "Isegawa Y."xsd:string |
| http://purl.uniprot.org/citations/8297359 | http://purl.uniprot.org/core/author | "Isegawa Y."xsd:string |
| http://purl.uniprot.org/citations/8297359 | http://purl.uniprot.org/core/author | "Sakai N."xsd:string |
| http://purl.uniprot.org/citations/8297359 | http://purl.uniprot.org/core/author | "Sakai N."xsd:string |
| http://purl.uniprot.org/citations/8297359 | http://purl.uniprot.org/core/author | "Fukushima H."xsd:string |
| http://purl.uniprot.org/citations/8297359 | http://purl.uniprot.org/core/author | "Fukushima H."xsd:string |
| http://purl.uniprot.org/citations/8297359 | http://purl.uniprot.org/core/author | "Nishimoto J."xsd:string |
| http://purl.uniprot.org/citations/8297359 | http://purl.uniprot.org/core/author | "Nishimoto J."xsd:string |
| http://purl.uniprot.org/citations/8297359 | http://purl.uniprot.org/core/author | "Yanagihara I."xsd:string |
| http://purl.uniprot.org/citations/8297359 | http://purl.uniprot.org/core/author | "Yanagihara I."xsd:string |
| http://purl.uniprot.org/citations/8297359 | http://purl.uniprot.org/core/date | "1994"xsd:gYear |
| http://purl.uniprot.org/citations/8297359 | http://purl.uniprot.org/core/date | "1994"xsd:gYear |