347 related articles for article (PubMed ID: 2011574)
1. Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase.
Reichardt JK; Woo SL
Proc Natl Acad Sci U S A; 1991 Apr; 88(7):2633-7. PubMed ID: 2011574
[TBL] [Abstract][Full Text] [Related]
2. Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function analysis of human galactose-1-phosphate uridyltransferase.
Reichardt JK; Levy HL; Woo SL
Biochemistry; 1992 Jun; 31(24):5430-3. PubMed ID: 1610789
[TBL] [Abstract][Full Text] [Related]
3. A yeast expression system for human galactose-1-phosphate uridylyltransferase.
Fridovich-Keil JL; Jinks-Robertson S
Proc Natl Acad Sci U S A; 1993 Jan; 90(2):398-402. PubMed ID: 8421669
[TBL] [Abstract][Full Text] [Related]
4. Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase.
Reichardt JK; Packman S; Woo SL
Am J Hum Genet; 1991 Oct; 49(4):860-7. PubMed ID: 1897530
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Genetic basis of galactosemia.
Reichardt JK
Hum Mutat; 1992; 1(3):190-6. PubMed ID: 1301925
[TBL] [Abstract][Full Text] [Related]
7. Characterization of two stop codon mutations in the galactose-1-phosphate uridyltransferase gene of three male galactosemic patients with severe clinical manifestation.
Gathof BS; Sommer M; Podskarbi T; Reichardt J; Braun A; Gresser U; Shin YS
Hum Genet; 1995 Dec; 96(6):721-5. PubMed ID: 8522334
[TBL] [Abstract][Full Text] [Related]
8. Mutations in the galactose-1-phosphate uridyltransferase gene of two families with mild galactosaemia variants.
Sommer M; Gathof BS; Podskarbi T; Giugliani R; Kleinlein B; Shin YS
J Inherit Metab Dis; 1995; 18(5):567-76. PubMed ID: 8598637
[TBL] [Abstract][Full Text] [Related]
9. On the molecular nature of the Duarte variant of galactose-1-phosphate uridyl transferase (GALT).
Lin HC; Kirby LT; Ng WG; Reichardt JK
Hum Genet; 1994 Feb; 93(2):167-9. PubMed ID: 8112740
[TBL] [Abstract][Full Text] [Related]
10. Functional analysis of the human galactose-1-phosphate uridyltransferase promoter in Duarte and LA variant galactosemia.
Elsas LJ; Lai K; Saunders CJ; Langley SD
Mol Genet Metab; 2001 Apr; 72(4):297-305. PubMed ID: 11286503
[TBL] [Abstract][Full Text] [Related]
11. Characterization of two missense mutations in human galactose-1-phosphate uridyltransferase: different molecular mechanisms for galactosemia.
Reichardt JK; Belmont JW; Levy HL; Woo SL
Genomics; 1992 Mar; 12(3):596-600. PubMed ID: 1373122
[TBL] [Abstract][Full Text] [Related]
12. Simultaneous occurrence of various mutations and polymorphisms in cis and in trans of the galactose-1-phosphate uridyltransferase gene in a Turkish family with classical galactosemia.
Schuster V; Podskarbi T; Ottensmeier H; Haubner M; Shin YS
J Mol Med (Berl); 1998 Sep; 76(10):715-9. PubMed ID: 9766850
[TBL] [Abstract][Full Text] [Related]
13. The first study of galactose-1-phosphate uridyl transferase mutations in Iranian galactosemia patients.
Mirzajani F; Mirfakhraie R; Nabati F; Tabatabaei NN; Talachian E; Houshmand M
Clin Biochem; 2006 Jul; 39(7):697-9. PubMed ID: 16765930
[TBL] [Abstract][Full Text] [Related]
14. Three missense mutations in the galactose-1-phosphate uridyltransferase gene of three families with mild galactosaemia.
Shin YS; Gathof BS; Podskarbi T; Sommer M; Giugliani R; Gresser U
Eur J Pediatr; 1996 May; 155(5):393-7. PubMed ID: 8741038
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Galactosemia: deletion in the 5' upstream region of the GALT gene reduces promoter efficiency.
Trbusek M; Francová H; Kozák L
Hum Genet; 2001 Jul; 109(1):117-20. PubMed ID: 11479743
[TBL] [Abstract][Full Text] [Related]
17. A novel splicing mutation in GALT gene causing Galactosemia in Ecuadorian family.
De Lucca M; Barba C; Casique L
Clin Chim Acta; 2017 Jul; 470():20-23. PubMed ID: 28450132
[TBL] [Abstract][Full Text] [Related]
18. The human galactose-1-phosphate uridyltransferase gene.
Leslie ND; Immerman EB; Flach JE; Florez M; Fridovich-Keil JL; Elsas LJ
Genomics; 1992 Oct; 14(2):474-80. PubMed ID: 1427861
[TBL] [Abstract][Full Text] [Related]
19. Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.
Tyfield L; Reichardt J; Fridovich-Keil J; Croke DT; Elsas LJ; Strobl W; Kozak L; Coskun T; Novelli G; Okano Y; Zekanowski C; Shin Y; Boleda MD
Hum Mutat; 1999; 13(6):417-30. PubMed ID: 10408771
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
