362 related articles for article (PubMed ID: 11828341)
1. Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype.
Ishii S; Nakao S; Minamikawa-Tachino R; Desnick RJ; Fan JQ
Am J Hum Genet; 2002 Apr; 70(4):994-1002. PubMed ID: 11828341
[TBL] [Abstract][Full Text] [Related]
2. Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease.
Filoni C; Caciotti A; Carraresi L; Donati MA; Mignani R; Parini R; Filocamo M; Soliani F; Simi L; Guerrini R; Zammarchi E; Morrone A
Eur J Hum Genet; 2008 Nov; 16(11):1311-7. PubMed ID: 18560446
[TBL] [Abstract][Full Text] [Related]
3. Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease.
Topaloglu AK; Ashley GA; Tong B; Shabbeer J; Astrin KH; Eng CM; Desnick RJ
Mol Med; 1999 Dec; 5(12):806-11. PubMed ID: 10666480
[TBL] [Abstract][Full Text] [Related]
4. Invariant exon skipping in the human alpha-galactosidase A pre-mRNA: Ag+1 to t substitution in a 5'-splice site causing Fabry disease.
Sakuraba H; Eng CM; Desnick RJ; Bishop DF
Genomics; 1992 Apr; 12(4):643-50. PubMed ID: 1315304
[TBL] [Abstract][Full Text] [Related]
5. The prevalent deep intronic c. 639+919 G>A GLA mutation causes pseudoexon activation and Fabry disease by abolishing the binding of hnRNPA1 and hnRNP A2/B1 to a splicing silencer.
Palhais B; Dembic M; Sabaratnam R; Nielsen KS; Doktor TK; Bruun GH; Andresen BS
Mol Genet Metab; 2016 Nov; 119(3):258-269. PubMed ID: 27595546
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.
Eng CM; Resnick-Silverman LA; Niehaus DJ; Astrin KH; Desnick RJ
Am J Hum Genet; 1993 Dec; 53(6):1186-97. PubMed ID: 7504405
[TBL] [Abstract][Full Text] [Related]
8. Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes.
Eng CM; Ashley GA; Burgert TS; Enriquez AL; D'Souza M; Desnick RJ
Mol Med; 1997 Mar; 3(3):174-82. PubMed ID: 9100224
[TBL] [Abstract][Full Text] [Related]
9. Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations.
Shabbeer J; Yasuda M; Benson SD; Desnick RJ
Hum Genomics; 2006 Mar; 2(5):297-309. PubMed ID: 16595074
[TBL] [Abstract][Full Text] [Related]
10. Fabry disease: novel alpha-galactosidase A 3'-terminal mutations result in multiple transcripts due to aberrant 3'-end formation.
Yasuda M; Shabbeer J; Osawa M; Desnick RJ
Am J Hum Genet; 2003 Jul; 73(1):162-73. PubMed ID: 12796853
[TBL] [Abstract][Full Text] [Related]
11. Modulation the alternative splicing of GLA (IVS4+919G>A) in Fabry disease.
Chang WH; Niu DM; Lu CY; Lin SY; Liu TC; Chang JG
PLoS One; 2017; 12(4):e0175929. PubMed ID: 28430823
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.
Bernstein HS; Bishop DF; Astrin KH; Kornreich R; Eng CM; Sakuraba H; Desnick RJ
J Clin Invest; 1989 Apr; 83(4):1390-9. PubMed ID: 2539398
[TBL] [Abstract][Full Text] [Related]
15. Genetic epidemiological study doesn't support GLA IVS4+919G>A variant is a significant mutation in Fabry disease.
Chiang HL; Wang NH; Song IW; Chang CP; Wen MS; Chien YH; Hwu WL; Tsai FJ; Chen YT; Wu JY
Mol Genet Metab; 2017 May; 121(1):22-27. PubMed ID: 28377241
[TBL] [Abstract][Full Text] [Related]
16. Novel acceptor splice site mutation in the invariant AG of intron 6 of alpha-galactosidase A gene, causing Fabry disease. Mutations in brief no. 146. Online.
Matsumura T; Osaka H; Sugiyama N; Kawanishi C; Maruyama Y; Suzuki K; Onishi H; Yamada Y; Morita M; Aoki M; Kosaka K
Hum Mutat; 1998; 11(6):483. PubMed ID: 10200059
[TBL] [Abstract][Full Text] [Related]
17. Identification of four novel mutations in five unrelated Korean families with Fabry disease.
Lee JK; Kim GH; Kim JS; Kim KK; Lee MC; Yoo HW
Clin Genet; 2000 Sep; 58(3):228-33. PubMed ID: 11076046
[TBL] [Abstract][Full Text] [Related]
18. Novel α-galactosidase A mutation in patients with severe cardiac manifestations of Fabry disease.
Duro G; Musumeci MB; Colomba P; Zizzo C; Albeggiani G; Mastromarino V; Volpe M; Autore C
Gene; 2014 Feb; 535(2):365-9. PubMed ID: 24140492
[TBL] [Abstract][Full Text] [Related]
19. Analysis of splice-site mutations of the alpha-galactosidase A gene in Fabry disease.
Lai LW; Whitehair O; Wu MJ; O'Meara M; Lien YH
Clin Genet; 2003 Jun; 63(6):476-82. PubMed ID: 12786754
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
