Rapid genetic testing for Gaucher disease by reverse hybridization

Annals of Clinical Biochemistry

Volumn 40, Issue 4, 2003, Pages 419-421

  Halsall, David J ^a   Kriegshäuser, Gernot ^b   Moritz, Anne ^b   Elsey, Terence S ^a   Oberkanins, Christian ^b  

^a CAMBRIDGE UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^b VIENNALAB DIAGNOSTICS GMBH   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ARTICLE; DNA HYBRIDIZATION; GAUCHER DISEASE; GENE MUTATION; GENETIC SCREENING; HUMAN; MAJOR CLINICAL STUDY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

GAUCHER DISEASE; GENETIC SCREENING; GENOTYPE; HUMANS; NUCLEIC ACID HYBRIDIZATION; POINT MUTATION; POLYMERASE CHAIN REACTION;

EID: 0038342836     PISSN: 00045632     EISSN: None     Source Type: Journal    
DOI: 10.1258/000456303766477093     Document Type: Article

References (4)

1. Hatton CE, Cooper A, Whitehouse C, Wraith JE. Mutation analysis in 46 British and Irish patients with Gaucher's disease. Arch Dis Child 1997; 77: 17-22
2. Koprivica V, Stone DL, Park JK, Callahan M, Frisch A, Cohen IJ, et al. Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. Am J Hum Genet 2000; 66: 1777-86
3. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988; 16: 1215
4. Beutler E, Gelbart T, Kuhl W, Zimran A, West C. Mutations in Jewish patients with Gaucher disease. Blood 1992; 79: 1662-6