258 related articles for article (PubMed ID: 11668641)
1. Fabry disease: 20 novel GLA mutations in 35 families.
Blaydon D; Hill J; Winchester B
Hum Mutat; 2001 Nov; 18(5):459. PubMed ID: 11668641
[TBL] [Abstract][Full Text] [Related]
2. Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes.
Ashton-Prolla P; Tong B; Shabbeer J; Astrin KH; Eng CM; Desnick RJ
J Investig Med; 2000 Jul; 48(4):227-35. PubMed ID: 10916280
[TBL] [Abstract][Full Text] [Related]
3. Molecular analysis in Fabry disease in Spain: fifteen novel GLA mutations and identification of a homozygous female.
Rodríguez-Marí A; Coll MJ; Chabás A
Hum Mutat; 2003 Sep; 22(3):258. PubMed ID: 12938095
[TBL] [Abstract][Full Text] [Related]
4. Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype.
Ashley GA; Shabbeer J; Yasuda M; Eng CM; Desnick RJ
J Hum Genet; 2001; 46(4):192-6. PubMed ID: 11322659
[TBL] [Abstract][Full Text] [Related]
5. Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease.
Schäfer E; Baron K; Widmer U; Deegan P; Neumann HP; Sunder-Plassmann G; Johansson JO; Whybra C; Ries M; Pastores GM; Mehta A; Beck M; Gal A
Hum Mutat; 2005 Apr; 25(4):412. PubMed ID: 15776423
[TBL] [Abstract][Full Text] [Related]
6. Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.
Shabbeer J; Robinson M; Desnick RJ
Hum Mutat; 2005 Mar; 25(3):299-305. PubMed ID: 15712228
[TBL] [Abstract][Full Text] [Related]
7. Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene.
Eng CM; Desnick RJ
Hum Mutat; 1994; 3(2):103-11. PubMed ID: 7911050
[TBL] [Abstract][Full Text] [Related]
8. Five novel mutations in fourteen patients with Fabry Disease.
Rosenberg KM; Schiffmann R; Kaneski C; Brady RO; Sorensen SA; Hasholt L
Hum Mutat; 2000 Feb; 15(2):207-8. PubMed ID: 10649504
[TBL] [Abstract][Full Text] [Related]
9. Two novel alpha-galactosidase A mutations causing Fabry disease: A missense mutation M11V in a heterozygote woman and a nonsense mutation R190X in a hemizygote man.
Celtikci B; Topçu M; Ozkara HA
Clin Biochem; 2011 Jul; 44(10-11):809-12. PubMed ID: 21569769
[TBL] [Abstract][Full Text] [Related]
10. Two novel mutations (L32P) and (G85N) among five different missense mutations in six Danish families with Fabry's disease.
Madsen KM; Hasholt L; Sørensen SA; Fermér ML; Dahl N
Hum Mutat; 1995; 5(3):277-8. PubMed ID: 7599642
[No Abstract] [Full Text] [Related]
11. Identification of a novel point mutation (S65T) in alpha-galactosidase A gene in Chinese patients with Fabry disease. Mutations in brief no. 169. Online.
Chen CH; Shyu PW; Wu SJ; Sheu SS; Desnick RJ; Hsiao KJ
Hum Mutat; 1998; 11(4):328-30. PubMed ID: 9554750
[TBL] [Abstract][Full Text] [Related]
12. Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.
Germain DP; Poenaru L
Biochem Biophys Res Commun; 1999 Apr; 257(3):708-13. PubMed ID: 10208848
[TBL] [Abstract][Full Text] [Related]
13. Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease.
Chien YH
Hum Genet; 2009 Apr; 125(3):336. PubMed ID: 19309800
[No Abstract] [Full Text] [Related]
14. A missense mutation, A156T, in the alpha-galactosidase A gene causes typical Fabry disease.
Konoshita T; Mutoh H; Yokoi T; Koni I; Miyamori I; Mabuchi H
Clin Nephrol; 2001 Mar; 55(3):243-7. PubMed ID: 11316246
[TBL] [Abstract][Full Text] [Related]
15. Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele.
Yasuda M; Shabbeer J; Benson SD; Maire I; Burnett RM; Desnick RJ
Hum Mutat; 2003 Dec; 22(6):486-92. PubMed ID: 14635108
[TBL] [Abstract][Full Text] [Related]
16. Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease.
Lin HY; Chong KW; Hsu JH; Yu HC; Huang CH; Niu DM
Hum Genet; 2010 Jan; 127(1):124. PubMed ID: 20108438
[No Abstract] [Full Text] [Related]
17. Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease.
Niu DM; Lin HY; Chong KW; Hsu JH; Yu HC; Huang CH
Hum Genet; 2010 Jan; 127(1):122. PubMed ID: 20108436
[No Abstract] [Full Text] [Related]
18. Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease.
Lin HY; Niu DM; Chong KW; Hsu JH; Yu HC; Huang CH
Hum Genet; 2010 Jan; 127(1):122-3. PubMed ID: 20108401
[No Abstract] [Full Text] [Related]
19. [alpha-Galactosidase gene mutation and its expression product in Fabry disease (alpha-galactosidase deficiency)].
Okumiya T; Takata T; Sasaki M; Sakuraba H
Rinsho Byori; 1997 Feb; 45(2):127-35. PubMed ID: 9120996
[TBL] [Abstract][Full Text] [Related]
20. Fabry disease: twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes.
Germain DP; Shabbeer J; Cotigny S; Desnick RJ
Mol Med; 2002 Jun; 8(6):306-12. PubMed ID: 12428061
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]