| http://purl.uniprot.org/citations/7717400 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/7717400 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/7717400 | http://www.w3.org/2000/01/rdf-schema#comment | "An autosomal recessive deficiency of acid alpha-glucosidase (GAA), type II glycogenosis, is genetically and clinically heterogeneous. The discovery of an enzyme-inactivating genomic deletion of exon 18 in three unrelated genetic compound patients--two infants and an adult--provided a rare opportunity to analyze the effect of the second mutation in patients who displayed dramatically different phenotypes. A deletion of Lys-903 in one patient and a substitution of Arg for Leu-299 in another resulted in the fatal infantile form. In the adult, a T-to-G base change at position -13 of intron 1 resulted in alternatively spliced transcripts with deletion of exon 2, the location of the start codon. The low level of active enzyme (12% of normal) generated from the leakage of normally spliced mRNA sustained the patient to adult life."xsd:string |
| http://purl.uniprot.org/citations/7717400 | http://purl.uniprot.org/core/author | "Boerkoel C.F."xsd:string |
| http://purl.uniprot.org/citations/7717400 | http://purl.uniprot.org/core/author | "Boerkoel C.F."xsd:string |
| http://purl.uniprot.org/citations/7717400 | http://purl.uniprot.org/core/author | "Raben N."xsd:string |
| http://purl.uniprot.org/citations/7717400 | http://purl.uniprot.org/core/author | "Raben N."xsd:string |
| http://purl.uniprot.org/citations/7717400 | http://purl.uniprot.org/core/author | "Miller F.W."xsd:string |
| http://purl.uniprot.org/citations/7717400 | http://purl.uniprot.org/core/author | "Miller F.W."xsd:string |
| http://purl.uniprot.org/citations/7717400 | http://purl.uniprot.org/core/author | "Exelbert R."xsd:string |
| http://purl.uniprot.org/citations/7717400 | http://purl.uniprot.org/core/author | "Exelbert R."xsd:string |
| http://purl.uniprot.org/citations/7717400 | http://purl.uniprot.org/core/author | "Nicastri C."xsd:string |
| http://purl.uniprot.org/citations/7717400 | http://purl.uniprot.org/core/author | "Nicastri C."xsd:string |
| http://purl.uniprot.org/citations/7717400 | http://purl.uniprot.org/core/author | "Nichols R.C."xsd:string |
| http://purl.uniprot.org/citations/7717400 | http://purl.uniprot.org/core/author | "Nichols R.C."xsd:string |
| http://purl.uniprot.org/citations/7717400 | http://purl.uniprot.org/core/author | "Plotz P.H."xsd:string |
| http://purl.uniprot.org/citations/7717400 | http://purl.uniprot.org/core/author | "Plotz P.H."xsd:string |
| http://purl.uniprot.org/citations/7717400 | http://purl.uniprot.org/core/date | "1995"xsd:gYear |
| http://purl.uniprot.org/citations/7717400 | http://purl.uniprot.org/core/date | "1995"xsd:gYear |
| http://purl.uniprot.org/citations/7717400 | http://purl.uniprot.org/core/name | "Am. J. Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/7717400 | http://purl.uniprot.org/core/name | "Am. J. Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/7717400 | http://purl.uniprot.org/core/pages | "887-897"xsd:string |
| http://purl.uniprot.org/citations/7717400 | http://purl.uniprot.org/core/pages | "887-897"xsd:string |
| http://purl.uniprot.org/citations/7717400 | http://purl.uniprot.org/core/title | "Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II."xsd:string |
| http://purl.uniprot.org/citations/7717400 | http://purl.uniprot.org/core/title | "Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II."xsd:string |