142 related articles for article (PubMed ID: 1315304)
1. 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]
2. 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]
3. 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]
4. 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]
5. Alpha-galactosidase A gene rearrangements causing Fabry disease. Identification of short direct repeats at breakpoints in an Alu-rich gene.
Kornreich R; Bishop DF; Desnick RJ
J Biol Chem; 1990 Jun; 265(16):9319-26. PubMed ID: 2160973
[TBL] [Abstract][Full Text] [Related]
6. 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]
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: 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]
9. 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]
10. 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]
11. 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]
12. 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]
13. A 3' splice site consensus sequence mutation in the intron 3 of the alpha-galactosidase A gene in a patient with Fabry disease.
Yokoi T; Shinoda K; Ohno I; Kato K; Miyawaki T; Taniguchi N
Jinrui Idengaku Zasshi; 1991 Sep; 36(3):245-50. PubMed ID: 1753437
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. 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]
17. Two novel mutations in the alpha-galactosidase gene in Japanese classical hemizygotes with Fabry disease.
Okumiya T; Takenaka T; Ishii S; Kase R; Kamei S; Sakuraba H
Jpn J Hum Genet; 1996 Sep; 41(3):313-21. PubMed ID: 8996967
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. Fabry disease: detection of gene rearrangements in the human alpha-galactosidase A gene by multiplex PCR amplification.
Kornreich R; Desnick RJ
Hum Mutat; 1993; 2(2):108-11. PubMed ID: 8318986
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]