Incorrect assignment of N370S mutation status by mismatched PCR/RFLP method in two Gaucher patients

Journal of Inherited Metabolic Disease

Volumn 20, Issue 4, 1997, Pages 611-612

  Hodanova K ^a   Hrebicek M ^a   Cervenkova M ^a   Aerts, J M F G ^b   Zeman, J ^c  

^a Charles University in Prague and General University Hospital in Prague   (Czech Republic)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

^c CHARLES UNIVERSITY   (Czech Republic)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; GLUCOSYLCERAMIDASE; SINGLE STRANDED DNA;

ALLELE; ARTICLE; CLINICAL ARTICLE; DNA SEQUENCE; ENZYME DEFICIENCY; GAUCHER DISEASE; GENE MUTATION; GENOTYPE; HUMAN; MEDICAL DECISION MAKING; PHENOTYPE; POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

DNA MUTATIONAL ANALYSIS; GAUCHER DISEASE; GENOTYPE; HUMANS; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH;

EID: 0030873183     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005331814799     Document Type: Article

References (3)

1. Beutler E, Gelbart T (1996) Glucocerebrosidase (Gaucher disease). Hum Mutat 8: 207-213.
2. Beutler E, Gelbart T, West C (1990) The facile detection of the nt 1226 mutation of glucocerebrosidase by 'mismatched' PCR. Clin Chim Acta 194: 161-166.
3. Beutler E, Gelbart T, West C (1993) Identification of six new Gaucher disease mutations. Genomics 15: 203-205.