✦ LIBER ✦

Identification of a novel mutation in the alpha-galactosidase A gene in patients with Fabry disease

✍ Scribed by Paolo Colomba; Antonia Nucera; Carmela Zizzo; Giuseppe Albeggiani; Daniele Francofonte; Francesco Iemolo; Antonino Tuttolomondo; Antonio Pinto; Giovanni Duro

Book ID: 118431771
Publisher: Elsevier Science
Year: 2012
Tongue: English
Weight: 243 KB
Volume: 45
Category: Article
ISSN: 0009-9120
DOI: 10.1016/j.clinbiochem.2012.03.015

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Identification of novel mutations in the

Identification of novel mutations in the α-galactosidase A gene in patients with Fabry disease: Pitfalls of mutation analyses in patients with low α-galactosidase A activity

✍ Makoto Yoshimitsu; Koji Higuchi; Masaaki Miyata; Sean Devine; Andre Mattman; San 📂 Article 📅 2011 🏛 Elsevier 🌐 Japanese ⚖ 595 KB

Identification of a novel point mutation

Identification of a novel point mutation (S65T) in α-galactosidase A gene in Chinese patients with Fabry disease

✍ Chia-Hsiang Chen; Pei-Wen Shyu; Su-Jen Wu; Song-Shan Sheu; Robert J. Desnick; Kw 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 125 KB 👁 1 views

Fabry disease is an X-linked inborn error of sphingolipid catabolism resulting from deficient enzyme activity of a-galactosidase A. The molecular defects of human a-galactosidase A gene causing Fabry disease have been characterized, including gene rearrangement and point mutations, which show the ge

2168 – A novel mutation of the alpha gal

2168 – A novel mutation of the alpha galactosidase gene linked with fabry disease and therapy-resistant depression

✍ Weber, S.K.; Muehlbacher, M.; Egger, C.L.; Geretsegger, C.; Stuppaeck, C. 📂 Article 📅 2013 🏛 Elsevier Science 🌐 French ⚖ 31 KB

Identification of a novel de novo mutati

Identification of a novel de novo mutation (G373D) in the α-galactosidase A gene (GLA) in a patient affected with Fabry disease

✍ Dominique P. Germain; Dominique Salard; Florence Fellmann; Kemal Azibi; Catherin 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 19 KB

Fabry disease: 19 novel alterations in t

Fabry disease: 19 novel alterations in the alpha-galactosidase A gene in Brazilian families

✍ Turaça, Lauro; Pessoa, Juliana Gilbert; Motta, Fabiana Louise; Kyosen, Sandra Ob 📂 Article 📅 2013 🏛 Elsevier Science 🌐 English ⚖ 63 KB

Novel α-galactosidase A mutation in pati

Novel α-galactosidase A mutation in patients with severe cardiac manifestations of Fabry disease

✍ Duro, Giovanni; Musumeci, M. Beatrice; Colomba, Paolo; Zizzo, Carmela; Albeggian 📂 Article 📅 2014 🏛 Elsevier Science 🌐 English ⚖ 753 KB