✦ LIBER ✦

A classical phenotype of Anderson-Fabry disease in a female patient with intronic mutations of the GLA gene: a case report

✍ Scribed by Pisani, Antonio; Imbriaco, Massimo; Zizzo, Carmela; Albeggiani, Giuseppe; Colomba, Paolo; Alessandro, Riccardo; Iemolo, Francesco; Duro, Giovanni

Book ID: 119895860
Publisher: BioMed Central
Year: 2012
Tongue: English
Weight: 199 KB
Volume: 12
Category: Article
ISSN: 1471-2261
DOI: 10.1186/1471-2261-12-39

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Comprehensive clinical evaluation of a l

Comprehensive clinical evaluation of a large Spanish family with Anderson-Fabry disease, novel GLA mutation and severe cardiac phenotype

✍ San Román-Monserrat, Irene; Moreno-Flores, Victoria; López-Cuenca, David; Rodríg 📂 Article 📅 2014 🏛 Elsevier Science 🌐 Spanish ⚖ 834 KB

Description of a new mutation in a femal

Description of a new mutation in a female patient with Fabry disease

✍ Emanuel Correia; Joana Vidinha; Bruno Rodrigues; Luís Santos; Davide Moreira; Je 📂 Article 📅 2011 🏛 Elsevier ⚖ 159 KB

A 3′ splice site consensus sequence muta

A 3′ splice site consensus sequence mutation in the intron 3 of the α-galactosidase a gene in a patient with Fabry disease

✍ Tohru Yokoi; Kazuko Shinoda; Ichiro Ohno; Kimitaka Kato; Toshio Miyawaki; Noboru 📂 Article 📅 1991 🏛 Nature Publishing Group 🌐 English ⚖ 573 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

Identification of a novel mutation in th

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

✍ Paolo Colomba; Antonia Nucera; Carmela Zizzo; Giuseppe Albeggiani; Daniele Franc 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 243 KB

Deep intronic point mutations of the KIT

Deep intronic point mutations of the KIT gene in a female patient with cutaneous clear cell sarcoma and her family

✍ Thilo Gambichler; Ioanna Pantelaki; Nick Othlinghaus; Rose K.C. Moritz; Ingo Str 📂 Article 📅 2012 🏛 Elsevier 🌐 English ⚖ 890 KB