| http://purl.uniprot.org/citations/1864608 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/1864608 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/1864608 | http://www.w3.org/2000/01/rdf-schema#comment | "Single-stranded cDNA was prepared from RNA obtained from a patient with type 1 Gaucher disease. The cDNA was amplified in vitro and analyzed by sequencing. Three base-pair changes were identified which included a G to C transversion at nucleotide 3119 of the active gene (Asp140----His), an A to C transversion at nucleotide 3170 (Lys157----Gln) and a G to A change at nucleotide 5309 (Glu326----Lys). To study the mode of inheritance of the three different base-pair changes, genomic DNA was prepared from blood or skin fibroblasts of several family members. Genomic glucocerebrosidase DNA sequences were amplified and subjected to hybridization with allele-specific oligonucleotides (ASOs). The hybridization profiles demonstrated that two of the base-pair changes originated from the mother and were transmitted to her two affected sons and to a grandchild, while the third base-pair change, originating from the father, was transmitted to his two affected sons, a carrier daughter and a second grandchild. Tests of other patients with Gaucher disease failed to disclose the presence of the three base-changes. This is a unique family with three base-pair changes tightly linked to Gaucher disease."xsd:string |
| http://purl.uniprot.org/citations/1864608 | http://purl.org/dc/terms/identifier | "doi:10.1007/bf00200914"xsd:string |
| http://purl.uniprot.org/citations/1864608 | http://purl.org/dc/terms/identifier | "doi:10.1007/bf00200914"xsd:string |
| http://purl.uniprot.org/citations/1864608 | http://purl.uniprot.org/core/author | "Horowitz M."xsd:string |
| http://purl.uniprot.org/citations/1864608 | http://purl.uniprot.org/core/author | "Horowitz M."xsd:string |
| http://purl.uniprot.org/citations/1864608 | http://purl.uniprot.org/core/author | "Kolodny E.H."xsd:string |
| http://purl.uniprot.org/citations/1864608 | http://purl.uniprot.org/core/author | "Kolodny E.H."xsd:string |
| http://purl.uniprot.org/citations/1864608 | http://purl.uniprot.org/core/author | "Eyal N."xsd:string |
| http://purl.uniprot.org/citations/1864608 | http://purl.uniprot.org/core/author | "Eyal N."xsd:string |
| http://purl.uniprot.org/citations/1864608 | http://purl.uniprot.org/core/author | "Firon N."xsd:string |
| http://purl.uniprot.org/citations/1864608 | http://purl.uniprot.org/core/author | "Firon N."xsd:string |
| http://purl.uniprot.org/citations/1864608 | http://purl.uniprot.org/core/author | "Wilder S."xsd:string |
| http://purl.uniprot.org/citations/1864608 | http://purl.uniprot.org/core/author | "Wilder S."xsd:string |
| http://purl.uniprot.org/citations/1864608 | http://purl.uniprot.org/core/date | "1991"xsd:gYear |
| http://purl.uniprot.org/citations/1864608 | http://purl.uniprot.org/core/date | "1991"xsd:gYear |
| http://purl.uniprot.org/citations/1864608 | http://purl.uniprot.org/core/name | "Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/1864608 | http://purl.uniprot.org/core/name | "Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/1864608 | http://purl.uniprot.org/core/pages | "328-332"xsd:string |
| http://purl.uniprot.org/citations/1864608 | http://purl.uniprot.org/core/pages | "328-332"xsd:string |
| http://purl.uniprot.org/citations/1864608 | http://purl.uniprot.org/core/title | "Three unique base pair changes in a family with Gaucher disease."xsd:string |
| http://purl.uniprot.org/citations/1864608 | http://purl.uniprot.org/core/title | "Three unique base pair changes in a family with Gaucher disease."xsd:string |
| http://purl.uniprot.org/citations/1864608 | http://purl.uniprot.org/core/volume | "87"xsd:string |
| http://purl.uniprot.org/citations/1864608 | http://purl.uniprot.org/core/volume | "87"xsd:string |