89 related articles for article (PubMed ID: 1753437)
1. 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]
2. 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]
3. 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]
4. 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]
5. A G-to-A transition at the fifth position of intron-32 of the dystrophin gene inactivates a splice-donor site both in vivo and in vitro.
Thi Tran HT; Takeshima Y; Surono A; Yagi M; Wada H; Matsuo M
Mol Genet Metab; 2005 Jul; 85(3):213-9. PubMed ID: 15979033
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease.
Klima H; Ullrich K; Aslanidis C; Fehringer P; Lackner KJ; Schmitz G
J Clin Invest; 1993 Dec; 92(6):2713-8. PubMed ID: 8254026
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Point mutation in the alpha-galactosidase A gene of atypical Fabry disease with only nephropathy.
Sawada K; Mizoguchi K; Hishida A; Kaneko E; Koide Y; Nishimura K; Kimura M
Clin Nephrol; 1996 May; 45(5):289-94. PubMed ID: 8738659
[TBL] [Abstract][Full Text] [Related]
10. A novel RNA splicing mutation in Japanese patients with Wilson disease.
Shimizu N; Kawase C; Nakazono H; Hemmi H; Shimatake H; Aoki T
Biochem Biophys Res Commun; 1995 Dec; 217(1):16-20. PubMed ID: 8526905
[TBL] [Abstract][Full Text] [Related]
11. A de novo G+1-->A mutation at the alpha 2(I) exon 16 splice donor site causes skipping of exon 16 in the cDNA of one allele of an OI type IV proband.
Filie JD; Orrison BM; Wang Q; Lewis MB; Marini JC
Hum Mutat; 1993; 2(5):380-8. PubMed ID: 8257992
[TBL] [Abstract][Full Text] [Related]
12. Metachromatic leukodystrophy in the Navajo Indian population: a splice site mutation in intron 4 of the arylsulfatase A gene.
Pastor-Soler NM; Rafi MA; Hoffman JD; Hu D; Wenger DA
Hum Mutat; 1994; 4(3):199-207. PubMed ID: 7833949
[TBL] [Abstract][Full Text] [Related]
13. 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]
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. Fabry disease: detection of 13-bp deletion in alpha-galactosidase A gene and its application to gene diagnosis of heterozygotes.
Ishii S; Sakuraba H; Shimmoto M; Minamikawa-Tachino R; Suzuki T; Suzuki Y
Ann Neurol; 1991 May; 29(5):560-4. PubMed ID: 1650161
[TBL] [Abstract][Full Text] [Related]
16. A chronic GM2 gangliosidosis variant with a HEXA splicing defect: quantitation of HEXA mRNAs in normal and mutant fibroblasts.
Fernandes MJ; Hechtman P; Boulay B; Kaplan F
Eur J Hum Genet; 1997; 5(3):129-36. PubMed ID: 9272736
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. A novel splicing acceptor mutation of the factor VIII gene producing skipping of exon 25.
Gau JP; Hsu HC; Chau WK; Ho CH
Ann Hematol; 2003 Mar; 82(3):175-7. PubMed ID: 12634951
[TBL] [Abstract][Full Text] [Related]
20. A carboxy-terminal truncation of human alpha-galactosidase A in a heterozygous female with Fabry disease and modification of the enzymatic activity by the carboxy-terminal domain. Increased, reduced, or absent enzyme activity depending on number of amino acid residues deleted.
Miyamura N; Araki E; Matsuda K; Yoshimura R; Furukawa N; Tsuruzoe K; Shirotani T; Kishikawa H; Yamaguchi K; Shichiri M
J Clin Invest; 1996 Oct; 98(8):1809-17. PubMed ID: 8878432
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
