✦ LIBER ✦

Cerebral Cavernomas in a Family with Multiple Cutaneous and Uterine Leiomyomas Associated with a New Mutation in the Fumarate Hydratase Gene

✍ Scribed by Campione, Elena; Terrinoni, Alessandro; Orlandi, Augusto; Codispoti, Andrea; Melino, Gerry; Bianchi, Luca; Mazzotta, Annamaria; Garaci, Francesco Giuseppe; Ludovici, Andrea; Chimenti, Sergio

Book ID: 110049923
Publisher: Nature Publishing Group
Year: 2007
Tongue: English
Weight: 135 KB
Volume: 127
Category: Article
ISSN: 0022-202X
DOI: 10.1038/sj.jid.5700851

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Multiple cutaneous and uterine leiomyoma

Multiple cutaneous and uterine leiomyomata resulting from missense mutations in the fumarate hydratase gene

✍ G. S. Chuang; A. Martinez-Mir; D. E. Engler; R. F. Gmyrek; A. Zlotogorski; A. M. 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 178 KB

A new hyperekplexia family with a recess

A new hyperekplexia family with a recessive frameshift mutation in the GLRA1 gene

✍ Evelien Zoons; Ieke B. Ginjaar; Paul A.D. Bouma; Johannes A. Carpay; Marina A.J. 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 703 KB

A novel splicing mutation of the CYLD ge

A novel splicing mutation of the CYLD gene in a Taiwanese family with multiple familial trichoepithelioma

✍ T.-M. Huang; S.-C. Chao; J. Y.-Y. Lee 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 140 KB

A novel mutation in the ATP2C1 gene is a

A novel mutation in the ATP2C1 gene is associated with Hailey–Hailey disease in a Chinese family

✍ Zhou Jiang Liu; Tao Yang; Xiuchao Li; Mugen Liu; Qing Kenneth Wang; Jing Yu Liu 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 766 KB

Progressive supranuclear palsy and Parki

Progressive supranuclear palsy and Parkinson's disease in a family with a new mutation in the tau gene

✍ Giacomina Rossi; Elisabetta Gasparoli; Claudio Pasquali; Giuseppe Di Fede; Danie 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 193 KB 👁 2 views

A new mutation in the proteolipid protei

A new mutation in the proteolipid protein (PLP) gene in a German family with pelizaeus-merzbacher disease

✍ Pratt, Victoria M. ;Trofatter, James A. ;Schinzel, Albert ;Dlouhy, S. R. ;Connea 📂 Article 📅 1991 🏛 John Wiley and Sons 🌐 English ⚖ 313 KB 👁 2 views