197 related articles for article (PubMed ID: 2171331)
1. Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease.
Sakuraba H; Oshima A; Fukuhara Y; Shimmoto M; Nagao Y; Bishop DF; Desnick RJ; Suzuki Y
Am J Hum Genet; 1990 Nov; 47(5):784-9. PubMed ID: 2171331
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. Point mutations in the upstream region of the alpha-galactosidase A gene exon 6 in an atypical variant of Fabry disease.
Ishii S; Sakuraba H; Suzuki Y
Hum Genet; 1992 Apr; 89(1):29-32. PubMed ID: 1315715
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene.
Eng CM; Niehaus DJ; Enriquez AL; Burgert TS; Ludman MD; Desnick RJ
Hum Mol Genet; 1994 Oct; 3(10):1795-9. PubMed ID: 7531540
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. 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]
13. 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]
14. 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]
15. Japanese patients with Fabry disease predominantly showing cardiac and neurological manifestation with novel missense mutation: R220P.
Fukutomi M; Tanaka N; Uchinoumi H; Kanemoto M; Nakao F; Yamada J; Kamei T; Takenaka T; Fujii T
J Cardiol; 2013 Jul; 62(1):63-9. PubMed ID: 23608164
[TBL] [Abstract][Full Text] [Related]
16. Mutation analysis of alpha-galactosidase a gene in Hungarian Fabry patients.
László A; Török L; Raffai S; Török E; Sallay E; Endreffy E; Morvai L; van Amstel JK
Ideggyogy Sz; 2012 Jan; 65(1-2):35-9. PubMed ID: 22338844
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. 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]
20. 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]
[Next] [New Search]