Characterization of an unusual deletion of the galactose-1-phosphate uridyl transferase (GALT) gene

Genetics in Medicine

Volumn 8, Issue 10, 2006, Pages 635-640

  Coffee, Bradford ^a   Hjelm, Lawrence N ^a   DeLorenzo, Angela ^a   Courtney, Ebony M ^a   Yu, Chunli ^a   Muralidharan, Kasinathan ^a  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Ashkenazi Jewish; Deletion; Galactose 1 phosphate uridyl transferase; Galactosemia

Indexed keywords

GALACTOSE 1 PHOSPHATE URIDYLYLTRANSFERASE;

ARTICLE; CONTROLLED STUDY; GALACTOSEMIA; GENE AMPLIFICATION; GENE DELETION; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENE STRUCTURE; GENETIC ANALYSIS; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; PHENOTYPE; POLYMERASE CHAIN REACTION;

BASE SEQUENCE; DNA; DNA BREAKS, DOUBLE-STRANDED; DNA MUTATIONAL ANALYSIS; GALACTOSEMIAS; GENE DELETION; GENE FREQUENCY; GENOTYPE; HUMANS; MOLECULAR SEQUENCE DATA; PHENOTYPE; POLYMERASE CHAIN REACTION; UTP-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE;

EID: 33750570260     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.gim.0000237720.78475.fb     Document Type: Article

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