| http://purl.uniprot.org/citations/10735634 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10735634 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10735634 | http://www.w3.org/2000/01/rdf-schema#comment | "DNA screening for mutations in the alpha-L-iduronidase (IDUA) gene was performed in a Chinese mucopolysaccharidosis type IH/S patient. The patient had two different mutations: the maternal allele has L346R (t-g transversion in codon 346) and the paternal allele has 388-3c-g (c-g transversion at position -3 of the 3' splice site of intron 2). In transfected COS-7 cells, L346R showed no appreciable IDUA activity (0.4% of normal activity), although it did not cause an apparent reduction in IDUA mRNA or protein level. The 388-3c-g mutation profoundly affects normal splicing leading to a very unstable mRNA. Expression of the IDUA cDNA containing the mutated acceptor splice site showed trace amounts of enzyme activity (1.6% of normal activity). The results provide further support for the importance of cytosine at the -3 position in RNA processing."xsd:string |
| http://purl.uniprot.org/citations/10735634 | http://purl.org/dc/terms/identifier | "doi:10.1034/j.1399-0004.2000.570207.x"xsd:string |
| http://purl.uniprot.org/citations/10735634 | http://purl.org/dc/terms/identifier | "doi:10.1034/j.1399-0004.2000.570207.x"xsd:string |
| http://purl.uniprot.org/citations/10735634 | http://purl.uniprot.org/core/author | "Lin S.P."xsd:string |
| http://purl.uniprot.org/citations/10735634 | http://purl.uniprot.org/core/author | "Lin S.P."xsd:string |
| http://purl.uniprot.org/citations/10735634 | http://purl.uniprot.org/core/author | "Hwu W.L."xsd:string |
| http://purl.uniprot.org/citations/10735634 | http://purl.uniprot.org/core/author | "Hwu W.L."xsd:string |
| http://purl.uniprot.org/citations/10735634 | http://purl.uniprot.org/core/author | "Lee-Chen G.J."xsd:string |
| http://purl.uniprot.org/citations/10735634 | http://purl.uniprot.org/core/author | "Lee-Chen G.J."xsd:string |
| http://purl.uniprot.org/citations/10735634 | http://purl.uniprot.org/core/author | "Teng Y.N."xsd:string |
| http://purl.uniprot.org/citations/10735634 | http://purl.uniprot.org/core/author | "Teng Y.N."xsd:string |
| http://purl.uniprot.org/citations/10735634 | http://purl.uniprot.org/core/author | "Wang T.R."xsd:string |
| http://purl.uniprot.org/citations/10735634 | http://purl.uniprot.org/core/author | "Wang T.R."xsd:string |
| http://purl.uniprot.org/citations/10735634 | http://purl.uniprot.org/core/date | "2000"xsd:gYear |
| http://purl.uniprot.org/citations/10735634 | http://purl.uniprot.org/core/date | "2000"xsd:gYear |
| http://purl.uniprot.org/citations/10735634 | http://purl.uniprot.org/core/name | "Clin. Genet."xsd:string |
| http://purl.uniprot.org/citations/10735634 | http://purl.uniprot.org/core/name | "Clin. Genet."xsd:string |
| http://purl.uniprot.org/citations/10735634 | http://purl.uniprot.org/core/pages | "131-136"xsd:string |
| http://purl.uniprot.org/citations/10735634 | http://purl.uniprot.org/core/pages | "131-136"xsd:string |
| http://purl.uniprot.org/citations/10735634 | http://purl.uniprot.org/core/title | "Identification and characterization of -3c-g acceptor splice site mutation in human alpha-L-iduronidase associated with mucopolysaccharidosis type IH/S."xsd:string |
| http://purl.uniprot.org/citations/10735634 | http://purl.uniprot.org/core/title | "Identification and characterization of -3c-g acceptor splice site mutation in human alpha-L-iduronidase associated with mucopolysaccharidosis type IH/S."xsd:string |
| http://purl.uniprot.org/citations/10735634 | http://purl.uniprot.org/core/volume | "57"xsd:string |
| http://purl.uniprot.org/citations/10735634 | http://purl.uniprot.org/core/volume | "57"xsd:string |