Analysis of common mutations in the galactose-1-phosphate uridyl transferase gene: New assays to increase the sensitivity and specificity of newborn screening for galactosemia

Journal of Molecular Diagnostics

Volumn 5, Issue 1, 2003, Pages 42-47

  Dobrowolski, Steven F ^a   Banas, Richard A ^a   Suzow, Joseph G ^a   Berkley, Michelle ^a   Naylor, Edwin W ^a  

^a Neo Gen Screening   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; ASPARAGINE; ASPARTIC ACID; DNA; GALACTOSE; GALACTOSE 1 PHOSPHATE; GALACTOSE 1 PHOSPHATE URIDYLYLTRANSFERASE; GLUTAMINE; LEUCINE; LYSINE; PROLINE; SERINE; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; BIOTECHNOLOGY; BLOOD; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DNA DETERMINATION; ENVIRONMENTAL FACTOR; ENZYME ACTIVITY; GALACTOSEMIA; GENE AMPLIFICATION; GENE FREQUENCY; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; NEWBORN; NEWBORN SCREENING; NUCLEOTIDE SEQUENCE; SENSITIVITY AND SPECIFICITY;

EID: 0037322206     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1525-1578(10)60450-3     Document Type: Article

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