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4. Identification of mutations in the galactose-1-phosphate uridyltransferase (GALT) gene in 16 Turkish patients with galactosemia, including a novel mutation of F294Y. Mutation in brief no. 235. Online. Seyrantepe V; Ozguc M; Coskun T; Ozalp I; Reichardt JK Hum Mutat; 1999; 13(4):339. PubMed ID: 10220154 [TBL] [Abstract][Full Text] [Related]
5. Mutation analysis of the GALT gene in Czech and Slovak galactosemia populations: identification of six novel mutations, including a stop codon mutation (X380R). Kozák L; Francová H; Fajkusová L; Pijácková A; Macku J; Stastná S; Peskovová K; Martincová O; Krijt J; Bzdúch V Hum Mutat; 2000 Feb; 15(2):206. PubMed ID: 10649501 [TBL] [Abstract][Full Text] [Related]
6. Detection of common mutations in the GALT gene through ARMS. Mahmood U; Imran M; Naik SI; Cheema HA; Saeed A; Arshad M; Mahmood S Gene; 2012 Nov; 509(2):291-4. PubMed ID: 22963887 [TBL] [Abstract][Full Text] [Related]
7. Q188R, K285N, and N314D mutation-associated alleles in the galactose-1-phosphate uridyltransferase gene and female infertility. Lukac Bajalo J; Mencej S; Karas N; Mlinar B; Zitnik IP; Gersak K Fertil Steril; 2005 Mar; 83(3):776-8. PubMed ID: 15749517 [TBL] [Abstract][Full Text] [Related]
8. Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis. Greber-Platzer S; Guldberg P; Scheibenreiter S; Item C; Schuller E; Patel N; Strobl W Hum Mutat; 1997; 10(1):49-57. PubMed ID: 9222760 [TBL] [Abstract][Full Text] [Related]
9. Linkage disequilibrium between a SacI restriction fragment length polymorphism and two galactosemia mutations. Lin HC; Reichardt JK Hum Genet; 1995 Mar; 95(3):353-5. PubMed ID: 7868133 [TBL] [Abstract][Full Text] [Related]
11. Frequencies of Q188R and N314D mutations and IVS5-24g>A intron variation in the galactose-1-phosphate uridyl transferase (GALT) gene in the Slovenian population. Lukac-Bajalo J; Marc J; Mlinar B; Karas N; Krzisnik C; Battelino T Clin Chem Lab Med; 2002 Nov; 40(11):1109-13. PubMed ID: 12521227 [TBL] [Abstract][Full Text] [Related]
12. Biochemical and molecular characterization of GALT gene from Indian galactosemia patients: identification of 10 novel mutations and their structural and functional implications. Singh R; Thapa BR; Kaur G; Prasad R Clin Chim Acta; 2012 Dec; 414():191-6. PubMed ID: 23022339 [TBL] [Abstract][Full Text] [Related]
13. An extensive computational approach to analyze and characterize the functional mutations in the galactose-1-phosphate uridyl transferase (GALT) protein responsible for classical galactosemia. Kumar S U; Kumar D T; R S; Doss C GP; Zayed H Comput Biol Med; 2020 Feb; 117():103583. PubMed ID: 32072977 [TBL] [Abstract][Full Text] [Related]
14. Molecular analysis in newborns from Texas affected with galactosemia. Yang YP; Corley N; Garcia-Heras J Hum Mutat; 2002 Jan; 19(1):82-3. PubMed ID: 11754113 [TBL] [Abstract][Full Text] [Related]
15. [From gene to disease; galactosemia and galactose-1-phosphate uridyltransferase deficiency]. Bosch AM; Waterham HR; Bakker HD Ned Tijdschr Geneeskd; 2004 Jan; 148(2):80-1. PubMed ID: 14753129 [TBL] [Abstract][Full Text] [Related]
16. Galactosemia: when is it a newborn screening emergency? Berry GT Mol Genet Metab; 2012 May; 106(1):7-11. PubMed ID: 22483615 [TBL] [Abstract][Full Text] [Related]
17. Genetic basis of galactosemia. Reichardt JK Hum Mutat; 1992; 1(3):190-6. PubMed ID: 1301925 [TBL] [Abstract][Full Text] [Related]
18. Molecular characterization of galactosemia (type 1) mutations in Japanese. Ashino J; Okano Y; Suyama I; Yamazaki T; Yoshino M; Furuyama J; Lin HC; Reichardt JK; Isshiki G Hum Mutat; 1995; 6(1):36-43. PubMed ID: 7550229 [TBL] [Abstract][Full Text] [Related]
19. Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers. Murphy M; McHugh B; Tighe O; Mayne P; O'Neill C; Naughten E; Croke DT Eur J Hum Genet; 1999 Jul; 7(5):549-54. PubMed ID: 10439960 [TBL] [Abstract][Full Text] [Related]
20. The molecular biology of galactosemia. Elsas LJ; Lai K Genet Med; 1998; 1(1):40-8. PubMed ID: 11261429 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]