| http://purl.uniprot.org/citations/1652892 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/1652892 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/1652892 | http://www.w3.org/2000/01/rdf-schema#comment | "Infantile-onset glycogen storage disease type II, or Pompe disease, results from a genetic deficiency of the lysosomal enzyme acid alpha glucosidase (GAA). Sequencing of the cDNA from a cell line (GM 244) derived from a patient with Pompe disease demonstrated a T953-to-C transition that predicted a methionine-to-threonine substitution at codon 318. The basepair substitution resulted in loss of restriction-endonuclease sites for NcoI and StyI. Analysis of genomic DNA revealed both a normal and an abnormal NcoI fragment, indicating that the patient was a genetic compound. NcoI and StyI digestion of cDNA, amplified by PCR from reverse-transcribed RNA, demonstrated that greater than 95% of the GAA mRNA in GM 244 was derived from the allele carrying the missense mutation. The missense mutation was uncommon, since it was not detected in 37 additional GAA-deficient chromosomes, as determined by digestion of genomic DNA with NcoI and hybridization. The amino acid substitution predicts a new potential site for N-linked glycosylation, as well as major changes in secondary structure of the protein. We could confirm that the mutation was responsible for the enzyme deficiency by demonstrating that a hybrid minigene containing the mutation did not express GAA enzyme activity after transient gene expression. We have therefore now provided the first identification of a single-basepair missense mutation in a patient with Pompe disease and furthermore have demonstrated that the patient is a genetic compound with the second allele barely expressing mRNA."xsd:string |
| http://purl.uniprot.org/citations/1652892 | http://purl.uniprot.org/core/author | "Hirschhorn R."xsd:string |
| http://purl.uniprot.org/citations/1652892 | http://purl.uniprot.org/core/author | "Hirschhorn R."xsd:string |
| http://purl.uniprot.org/citations/1652892 | http://purl.uniprot.org/core/author | "Tzall S."xsd:string |
| http://purl.uniprot.org/citations/1652892 | http://purl.uniprot.org/core/author | "Tzall S."xsd:string |
| http://purl.uniprot.org/citations/1652892 | http://purl.uniprot.org/core/author | "Zhong N."xsd:string |
| http://purl.uniprot.org/citations/1652892 | http://purl.uniprot.org/core/author | "Zhong N."xsd:string |
| http://purl.uniprot.org/citations/1652892 | http://purl.uniprot.org/core/author | "Martiniuk F."xsd:string |
| http://purl.uniprot.org/citations/1652892 | http://purl.uniprot.org/core/author | "Martiniuk F."xsd:string |
| http://purl.uniprot.org/citations/1652892 | http://purl.uniprot.org/core/date | "1991"xsd:gYear |
| http://purl.uniprot.org/citations/1652892 | http://purl.uniprot.org/core/date | "1991"xsd:gYear |
| http://purl.uniprot.org/citations/1652892 | http://purl.uniprot.org/core/name | "Am. J. Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/1652892 | http://purl.uniprot.org/core/name | "Am. J. Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/1652892 | http://purl.uniprot.org/core/pages | "635-645"xsd:string |
| http://purl.uniprot.org/citations/1652892 | http://purl.uniprot.org/core/pages | "635-645"xsd:string |
| http://purl.uniprot.org/citations/1652892 | http://purl.uniprot.org/core/title | "Identification of a missense mutation in one allele of a patient with Pompe disease, and use of endonuclease digestion of PCR-amplified RNA to demonstrate lack of mRNA expression from the second allele."xsd:string |
| http://purl.uniprot.org/citations/1652892 | http://purl.uniprot.org/core/title | "Identification of a missense mutation in one allele of a patient with Pompe disease, and use of endonuclease digestion of PCR-amplified RNA to demonstrate lack of mRNA expression from the second allele."xsd:string |
| http://purl.uniprot.org/citations/1652892 | http://purl.uniprot.org/core/volume | "49"xsd:string |
| http://purl.uniprot.org/citations/1652892 | http://purl.uniprot.org/core/volume | "49"xsd:string |
| http://purl.uniprot.org/citations/1652892 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/1652892 |
| http://purl.uniprot.org/citations/1652892 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/1652892 |
| http://purl.uniprot.org/citations/1652892 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/1652892 |
| http://purl.uniprot.org/citations/1652892 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/1652892 |