Genetic diagnosis of Gaucher's disease
Mistry PK, Smith SJ, Ali M, Cox T, Hatton C, McIntyre N. Genetic diagnosis of Gaucher's disease. The Lancet 1992, 339: 889-892. PMID: 1348297, DOI: 10.1016/0140-6736(92)90928-v.Peer-Reviewed Original ResearchConceptsWild-type alleleMolecular basisGene analysisPoint mutationsMutationsGaucher diseaseAshkenazi Jewish descentAmplification refractory mutation systemGlucocerebrosidase geneGenetic counsellingAllelesCommon mutationsGenetic diagnosisPolymerase chain reactionUnrelated patientsPseudogenesDiverse ethnic originsGlucocerebrosidaseGenesChain reactionMutation systemJewish descentPrimersRefractory mutation system