The GALT rush: High carrier frequency of an unusual deletion mutation of the GALT gene in the Ashkenazi population

Molecular Genetics and Metabolism

Volumn 102, Issue 2, 2011, Pages 157-160

  Goldstein, Nurit ^a   Cohen, Yoram ^a   Pode Shakked, Ben ^a   Sigalov, Ekaterina ^a   Vilensky, Bela ^a   Peleg, Leah ^a,c   Anikster, Yair ^a,b  

^a SHEBA MEDICAL CENTER   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

^c GERTNER INSTITUTE FOR EPIDEMIOLOGY AND HEALTH POLICY RESEARCH   (Israel)

Author keywords

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

Indexed keywords

DNA; GALACTOSE 1 PHOSPHATE URIDYLYLTRANSFERASE;

ARTICLE; CONTROLLED STUDY; DELAYED DIAGNOSIS; DNA DETERMINATION; GALACTOSEMIA; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; GENOTYPE; HETEROZYGOTE; HUMAN; ISRAEL; JEW; MATRIX ASSISTED LASER DESORPTION IONIZATION TIME OF FLIGHT MASS SPECTROMETRY; MORBIDITY; MORTALITY; MULTIPLEX POLYMERASE CHAIN REACTION; POPULATION; PRIORITY JOURNAL;

GALACTOSEMIAS; GENE FREQUENCY; HETEROZYGOTE; HUMANS; JEWS; MOLECULAR TYPING; MUTATION; UTP-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE;

EID: 78651425184     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2010.10.007     Document Type: Article

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