Matches in SemOpenAlex for { <https://semopenalex.org/work/W21152970> ?p ?o ?g. }
Showing items 1 to 80 of
80
with 100 items per page.
- W21152970 endingPage "32" @default.
- W21152970 startingPage "527" @default.
- W21152970 abstract "Genomic DNA prepared from human cells in culture was amplified by the polymerase chain-reaction technique using two primers specific for the active human glucocerebrosidase gene. The 1,036-bp amplified fragment derived from the active gene was tested for the existence of three mutations--designated 370, NciI, and HhaI--by allele-specific oligonucleotide hybridization. The results obtained from the cell lines examined permitted a clear distinction between homozygous affected, heterozygous, and normal genotypes. However, 28% of the possible affected loci were normal with respect to the three mutations, indicating the presence of additional mutations that remain to be elucidated. While the NciI mutation could be found in both Ashkenazi Jewish and non-Jewish type 1 patients, the only homozygotes with this mutation had the neurological (type 2 or type 3) form of the disease. The 370 mutation, on the other hand, was only present in type 1 patients and was not identified among any of the patients with neurologic forms of the disease." @default.
- W21152970 created "2016-06-24" @default.
- W21152970 creator A5026212243 @default.
- W21152970 creator A5044559504 @default.
- W21152970 creator A5049974643 @default.
- W21152970 creator A5062684589 @default.
- W21152970 date "1990-03-01" @default.
- W21152970 modified "2023-09-23" @default.
- W21152970 title "Genotype assignment in Gaucher disease by selective amplification of the active glucocerebrosidase gene." @default.
- W21152970 cites W1462963177 @default.
- W21152970 cites W1517480469 @default.
- W21152970 cites W1569746061 @default.
- W21152970 cites W1978208924 @default.
- W21152970 cites W1981284599 @default.
- W21152970 cites W1995229058 @default.
- W21152970 cites W1997521650 @default.
- W21152970 cites W1999006276 @default.
- W21152970 cites W2012061944 @default.
- W21152970 cites W2018509808 @default.
- W21152970 cites W2020353337 @default.
- W21152970 cites W2032118018 @default.
- W21152970 cites W2039018441 @default.
- W21152970 cites W2050717506 @default.
- W21152970 cites W2061325032 @default.
- W21152970 cites W2076854734 @default.
- W21152970 cites W2124663723 @default.
- W21152970 cites W2327295182 @default.
- W21152970 cites W2338971463 @default.
- W21152970 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/1683624" @default.
- W21152970 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/2309702" @default.
- W21152970 hasPublicationYear "1990" @default.
- W21152970 type Work @default.
- W21152970 sameAs 21152970 @default.
- W21152970 citedByCount "18" @default.
- W21152970 crossrefType "journal-article" @default.
- W21152970 hasAuthorship W21152970A5026212243 @default.
- W21152970 hasAuthorship W21152970A5044559504 @default.
- W21152970 hasAuthorship W21152970A5049974643 @default.
- W21152970 hasAuthorship W21152970A5062684589 @default.
- W21152970 hasConcept C104317684 @default.
- W21152970 hasConcept C135763542 @default.
- W21152970 hasConcept C153911025 @default.
- W21152970 hasConcept C17757408 @default.
- W21152970 hasConcept C180754005 @default.
- W21152970 hasConcept C2780674200 @default.
- W21152970 hasConcept C49105822 @default.
- W21152970 hasConcept C501734568 @default.
- W21152970 hasConcept C54355233 @default.
- W21152970 hasConcept C86803240 @default.
- W21152970 hasConceptScore W21152970C104317684 @default.
- W21152970 hasConceptScore W21152970C135763542 @default.
- W21152970 hasConceptScore W21152970C153911025 @default.
- W21152970 hasConceptScore W21152970C17757408 @default.
- W21152970 hasConceptScore W21152970C180754005 @default.
- W21152970 hasConceptScore W21152970C2780674200 @default.
- W21152970 hasConceptScore W21152970C49105822 @default.
- W21152970 hasConceptScore W21152970C501734568 @default.
- W21152970 hasConceptScore W21152970C54355233 @default.
- W21152970 hasConceptScore W21152970C86803240 @default.
- W21152970 hasIssue "3" @default.
- W21152970 hasLocation W211529701 @default.
- W21152970 hasOpenAccess W21152970 @default.
- W21152970 hasPrimaryLocation W211529701 @default.
- W21152970 hasRelatedWork W136468098 @default.
- W21152970 hasRelatedWork W1572882831 @default.
- W21152970 hasRelatedWork W1995301423 @default.
- W21152970 hasRelatedWork W2004785803 @default.
- W21152970 hasRelatedWork W2052172218 @default.
- W21152970 hasRelatedWork W2060247112 @default.
- W21152970 hasRelatedWork W2084590640 @default.
- W21152970 hasRelatedWork W2391633642 @default.
- W21152970 hasRelatedWork W3202592045 @default.
- W21152970 hasRelatedWork W2022664658 @default.
- W21152970 hasVolume "46" @default.
- W21152970 isParatext "false" @default.
- W21152970 isRetracted "false" @default.
- W21152970 magId "21152970" @default.
- W21152970 workType "article" @default.