The GALT rush: High carrier frequency of an unusual deletion mutation of the GALT gene in the Ashkenazi population - Goldstein, Nurit; Cohen, Yoram; Pode-Shakked, Ben; Sigalov, Ekaterina; Vilensky, Bela; Peleg, Leah; Anikster, Yair (Molecular genetics and metabolism, 2011)
Keywords: alleles; animal ovaries; Ashkenazi Jewish; counseling; Deletion; diet; DNA; galactose; Galactose-1-phosphate uridyl transferase; Galactosemia; Galactosemias - genetics; Gene Frequency; heterozygosity; Heterozygote; Humans; Israel; Jews; Jews - genetics; lactose; metabolism; milk; Molecular Typing; morbidity; mortality; Mutation; patients; polymerase chain reaction; Prenatal screening; screening; sequence deletion; spectrometers; UTP-Hexose-1-Phosphate Uridylyltransferase - genetics; Israel; GALT; Ashkenazi Jewish; MALDI-TOF; IMH; AJ; Galactose-1-phosphate uridyl transferase; Galactosemia; MSUD; DDW; Deletion; Prenatal screening; WT; Gal-1-P