Combination of enzyme analysis, allele-specific PCR and sequencing to detect mutations in the GALT gene.

Journal of inherited metabolic disease

Volumn 30, Issue 5, 2007, Pages 818-

  Calderon, F R ^a   Nelson, L ^a   Dobrowolski, P ^a   Sinitsyna, I ^a   Phansalkar, A ^a   Longo, N ^a   Pasquali, M ^a   Mao, R ^a  

^a ARUP INSTITUTE FOR CLINICAL AND EXPERIMENTAL PATHOLOGY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GALACTOSE 1 PHOSPHATE URIDYLYLTRANSFERASE;

ALLELE; ARTICLE; ENZYMOLOGY; GALACTOSEMIA; GENETIC POLYMORPHISM; GENETIC SCREENING; GENETICS; HUMAN; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PREDICTION AND FORECASTING;

ALLELES; DNA MUTATIONAL ANALYSIS; GALACTOSEMIAS; GENETIC SCREENING; HUMANS; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; PREDICTIVE VALUE OF TESTS; UTP-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE;

EID: 35448972389     PISSN: None     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-007-0461-x     Document Type: Article

References (0)