182 related articles for article (PubMed ID: 7531540)
41. 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]
42. Fabry disease: molecular diagnosis of hemizygotes and heterozygotes.
Desnick RJ; Bernstein HS; Astrin KH; Bishop DF
Enzyme; 1987; 38(1-4):54-64. PubMed ID: 2831042
[TBL] [Abstract][Full Text] [Related]
43. Fabry disease: molecular carrier detection and prenatal diagnosis by analysis of closely linked polymorphisms at Xq22.1.
Caggana M; Ashley GA; Desnick RJ; Eng CM
Am J Med Genet; 1997 Aug; 71(3):329-35. PubMed ID: 9268104
[TBL] [Abstract][Full Text] [Related]
44. Fabry disease: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other European countries.
Davies JP; Eng CM; Hill JA; Malcolm S; MacDermot K; Winchester B; Desnick RJ
Eur J Hum Genet; 1996; 4(4):219-24. PubMed ID: 8875188
[TBL] [Abstract][Full Text] [Related]
45. Identification of mutations in Colombian patients affected with Fabry disease.
Uribe A; Mateus HE; Prieto JC; Palacios MF; Ospina SY; Pasqualim G; da Silveira Matte U; Giugliani R
Gene; 2015 Dec; 574(2):325-9. PubMed ID: 26297554
[TBL] [Abstract][Full Text] [Related]
46. 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]
47. Mutation spectrum of α-Galactosidase gene in Japanese patients with Fabry disease.
Kobayashi M; Ohashi T; Kaneshiro E; Higuchi T; Ida H
J Hum Genet; 2019 Jul; 64(7):695-699. PubMed ID: 30988410
[TBL] [Abstract][Full Text] [Related]
48. Molecular analysis in Fabry disease in Spain: fifteen novel GLA mutations and identification of a homozygous female.
Rodríguez-Marí A; Coll MJ; Chabás A
Hum Mutat; 2003 Sep; 22(3):258. PubMed ID: 12938095
[TBL] [Abstract][Full Text] [Related]
49. Fluorescence-assisted mismatch analysis (FAMA) for exhaustive screening of the alpha-galactosidase A gene and detection of carriers in Fabry disease.
Germain D; Biasotto M; Tosi M; Meo T; Kahn A; Poenaru L
Hum Genet; 1996 Dec; 98(6):719-26. PubMed ID: 8931708
[TBL] [Abstract][Full Text] [Related]
50. Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase.
Conley ME; Fitch-Hilgenberg ME; Cleveland JL; Parolini O; Rohrer J
Hum Mol Genet; 1994 Oct; 3(10):1751-6. PubMed ID: 7849697
[TBL] [Abstract][Full Text] [Related]
51. Alpha-galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins.
Okumiya T; Ishii S; Kase R; Kamei S; Sakuraba H; Suzuki Y
Hum Genet; 1995 May; 95(5):557-61. PubMed ID: 7759078
[TBL] [Abstract][Full Text] [Related]
52. A sensitive mutation screening strategy for Fabry disease: detection of nine mutations in the alpha-galactosidase A gene.
Blanch LC; Meaney C; Morris CP
Hum Mutat; 1996; 8(1):38-43. PubMed ID: 8807334
[TBL] [Abstract][Full Text] [Related]
53. A nonsense mutation (R220X) in the alpha-galactosidase A gene detected in a female carrier of Fabry disease.
Meaney C; Blanch LC; Morris CP
Hum Mol Genet; 1994 Jun; 3(6):1019-20. PubMed ID: 7951217
[No Abstract] [Full Text] [Related]
54. The gene encoding alpha-galactosidase A and gene rearrangements causing Fabry disease.
Kornreich R; Bishop DF; Desnick RJ
Trans Assoc Am Physicians; 1989; 102():30-43. PubMed ID: 2561643
[No Abstract] [Full Text] [Related]
55. Five novel mutations in fourteen patients with Fabry Disease.
Rosenberg KM; Schiffmann R; Kaneski C; Brady RO; Sorensen SA; Hasholt L
Hum Mutat; 2000 Feb; 15(2):207-8. PubMed ID: 10649504
[TBL] [Abstract][Full Text] [Related]
56. New point mutation (R301X) of the alpha-galactosidase A gene causing Fabry disease.
Kawanishi C; Osaka H; Inoue K; Onishi H; Yamada Y; Sugiyama N; Suzuki K; Hanihara T; Miyagawa T; Kimura S
Hum Mutat; 1995; 6(2):186-7. PubMed ID: 7581405
[No Abstract] [Full Text] [Related]
57. Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin.
Ishii S; Chang HH; Kawasaki K; Yasuda K; Wu HL; Garman SC; Fan JQ
Biochem J; 2007 Sep; 406(2):285-95. PubMed ID: 17555407
[TBL] [Abstract][Full Text] [Related]
58. Different phenotypic expression in relatives with fabry disease caused by a W226X mutation.
Knol IE; Ausems MG; Lindhout D; van Diggelen OP; Verwey H; Davies J; Ploos van Amstel JK; Poll-The BT
Am J Med Genet; 1999 Feb; 82(5):436-9. PubMed ID: 10069717
[TBL] [Abstract][Full Text] [Related]
59. Mutations of the CD40 ligand gene in 13 Japanese patients with X-linked hyper-IgM syndrome.
Nonoyama S; Shimadzu M; Toru H; Seyama K; Nunoi H; Neubauer M; Yata J; Och HD
Hum Genet; 1997 May; 99(5):624-7. PubMed ID: 9150729
[TBL] [Abstract][Full Text] [Related]
60.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Previous] [Next] [New Search]
