A PCR-based method for detecting known mutations in the human UDP galactose-4′-epimerase gene associated with epimerase-deficiency galactosemia

Clinical Genetics

Volumn 60, Issue 5, 2001, Pages 350-355

  Henderson, J M ^a   Huguenin, S M ^b   Cowan, T M ^b   Fridovich, J L ^c  

^a EMORY UNIVERSITY   (United States)

^b UNIVERSITY OF MARYLAND SCHOOL OF MEDICINE   (United States)

^c EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Epimerase deficiency; Galactosemia; Human; Mutation; PCR

Indexed keywords

COMPLEMENTARY DNA; URIDINE DIPHOSPHATE GLUCOSE 4 EPIMERASE;

AGAR GEL ELECTROPHORESIS; ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DISEASE SEVERITY; ENZYME DEFICIENCY; GALACTOSEMIA; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; HUMAN CELL; METHODOLOGY; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SAMPLE;

BASE SEQUENCE; DNA PRIMERS; GALACTOSEMIAS; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; POLYMERASE CHAIN REACTION; UDPGLUCOSE 4-EPIMERASE;

GALE;

EID: 0035179310     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2001.600505.x     Document Type: Article

References (14)

1. Characterization of two mutations associated with epimerase-deficiency galactosemia using a yeast expression system for human UDP-galactose-4-epimerase
2. Molecular characterization of a unique patient with epimerase-deficiency galactosaemia
3. UDPgalactose epimerase in lens and fibroblasts: Activity expression in patients with cataracts and mental retardation
4. Molecular cloning, characterization, and mapping of a full-length cDNA encoding human UDP-galactose 4′-epimerase
5. Human UDP-galactose 4′ epimerase (GALE) gene and identification of five missense mutations in patients with epimerase-deficiency galactosemia
6. UDP-galactose-4-epimerase deficiency among African-Americans: Evidence for multiple alleles
7. Identification and characterization of a mutation, in the human UDP galactose-4-epimerase gene, associated with generalized epimerase-deficiency galactosemia
8. Reversal of UDP-galactose 4-epimerase deficiency of human leukocytes in culture
9. Studies of the V94M-substituted human UDP-galactose-4-epimerase enzyme associated with generalized epimerase-deficiency galactosemia
10. Growth-responsive expression from the murine thymidine kinase promoter: Genetic analysis of DNA sequences
11. UDP-galactose 4-epimerase deficiency: Characterization of mutations in patients identified by newborn screening
12. Characterization of mutations detected in UDP-galactose 4-epimerase deficient patients identified by newborn screening