Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 9

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.

2.
3.

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. Review.

PMID:
11322659
4.

[alpha-Galactosidase gene mutation and its expression product in Fabry disease (alpha-galactosidase deficiency)].

Okumiya T, Takata T, Sasaki M, Sakuraba H.

Rinsho Byori. 1997 Feb;45(2):127-35. Review. Japanese.

PMID:
9120996
6.

A nonsense mutation (R220X) in the alpha-galactosidase A gene causes typical Fabry disease in both genders.

Maki N, Komatsuda A, Wakui H, Oyama Y, Kodama T, Ohtani H, Kigawa A, Aiba N, Imai H, Motegi M, Yamaguchi A, Sawada K.

Clin Nephrol. 2004 Mar;61(3):185-90. Review.

PMID:
15077869
7.

Structural basis of Fabry disease.

Garman SC, Garboczi DN.

Mol Genet Metab. 2002 Sep-Oct;77(1-2):3-11. Review.

PMID:
12359124
8.

[Fabry disease (alpha-galactosidase deficiency)].

Okumiya T, Sakuraba H.

Nihon Rinsho. 1995 Dec;53(12):2952-9. Review. Japanese.

PMID:
8577042
9.

The genetic basis of Fabry disease.

Gal A, Schäfer E, Rohard I.

In: Mehta A, Beck M, Sunder-Plassmann G, editors. Fabry Disease: Perspectives from 5 Years of FOS. Oxford: Oxford PharmaGenesis; 2006. Chapter 33.

Supplemental Content

Support Center