217 related articles for article (PubMed ID: 22338844)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. Fabry disease in a female patient due to a de novo point mutation at position 691 of exon 5.
Brokalaki EI; Hentschke M; Grabbe S; Jansen T
Eur J Med Res; 2006 Jul; 11(7):306-8. PubMed ID: 16899426
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. [Alpha-galactosidase A gene mutation in a Chinese family with Fabry disease mimicking clinical features of hypertrophic cardiomyopathy].
Liu HJ; Cao KJ; Li CR; Dai J; Ma JZ; Yong YH; Sun W
Zhonghua Xin Xue Guan Bing Za Zhi; 2006 Feb; 34(2):143-7. PubMed ID: 16626582
[TBL] [Abstract][Full Text] [Related]
11. Identification of a novel mutation in the alpha-galactosidase A gene in patients with Fabry disease.
Colomba P; Nucera A; Zizzo C; Albeggiani G; Francofonte D; Iemolo F; Tuttolomondo A; Pinto A; Duro G
Clin Biochem; 2012 Jul; 45(10-11):839-41. PubMed ID: 22465271
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. 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]
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.
Ferreira S; Valbuena C; Carvalho F; Oliveira JP
Hum Genet; 2009 Aug; 126(2):352. PubMed ID: 19694060
[No Abstract] [Full Text] [Related]
17. Two novel mutations in the alpha-galactosidase A gene in Chinese patients with Fabry disease.
Yang CC; Lai LW; Whitehair O; Hwu WL; Chiang SC; Lien YH
Clin Genet; 2003 Mar; 63(3):205-9. PubMed ID: 12694230
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. [Mutation of the alpha-galactosidase A gene in two unusual variations of Fabray's disease].
Beĭer EM; Kopishinskaia SV; Ploos van Amstel JK; Tsvetkova IV
Vopr Med Khim; 1999; 45(4):346-9. PubMed ID: 10547886
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
