Author:
Okumiya Toshika,Takenaka Toshihiro,Ishii Satoshi,Kase Ryoichi,Kamei Sachiko,Sakuraba Hitoshi
Publisher
Springer Science and Business Media LLC
Reference26 articles.
1. Antonarakis SE, Irkin SH, Cheng TC, Scott AF, Sexton JP, Trusko SP, Charache S, Kazazian HH Jr (1984): β-Thalassemia in American blacks: Novel mutations in the “TATA” box and an acceptor splice site. Proc Natl Acad Sci USA81: 1154–1158
2. Bishop DF, Kornreich R, Eng CM, Ioannou YA, Fitzmaurice TF, Desnick RJ (1988): Human α-galactosidase: Characterization and eukaryotic expression of the full-length cDNA and structural organization of the gene. In: Salvayre R, Douste-Blazy L, Gatt S (eds). Lipid storage disorders. Plenum, New York, pp 809–822
3. Davies JP, Winchester BG, Malcolm S (1993): Mutation analysis in patients with the typical form of Anderson-Fabry disease. Hum Mol Genet2: 1051–1053
4. Davies J, christomanou H, Winchester B, Malcolm S (1994): Detection of 8 new mutations in the α-galactosidase A gene in Fabry disease. Hum Mol Genet3: 667–669
5. Desnick RJ, Ioannou YA, Eng CM (1995): α-Galactosidase A deficiency: Fabry disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds). The metabolic and molecular bases of inherited disease, 7th ed. McGraw-Hill, New York, pp 2741–2784
Cited by
7 articles.
订阅此论文施引文献
订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献