✦ LIBER ✦

Characterization of mutations in the gene doublecortin in patients with double cortex syndrome

✍ Scribed by Joseph G. Gleeson; Sharon R. Minnerath; Jeremy W. Fox; Kristina M. Allen; Robert F. Luo; Susan E. Hong; Michael J. Berg; Ruben Kuzniecky; Pamela J. Reitnauer; Renato Borgatti; Alberto Puche Mira; Renzo Guerrini; Gregory L. Holmes; Cynthia M. Rooney; Samuel Berkovic; Ingrid Scheffer; Edward C. Cooper; Stefano Ricci; Raffaella Cusmai; Thomas O. Crawford; Robert Leroy; Eva Andermann; James W. Wheless; William B. Dobyns; M. Elizabeth Ross; Christopher A. Walsh

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 402 KB
Volume: 45
Category: Article
ISSN: 0364-5134
DOI: 10.1002/1531-8249(199902)45:2<146::aid-ana3>3.0.co;2-n

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutation analysis of the MECP2 gene in p

Mutation analysis of the MECP2 gene in patients with Rett syndrome

✍ Francesca L. Conforti; Rosalucia Mazzei; Angela Magariello; Alessandra Patitucci 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 46 KB 👁 2 views

Fifteen novel mutations in the JAGGED1 g

Fifteen novel mutations in the JAGGED1 gene of patients with Alagille syndrome

✍ Cécile Crosnier; Catherine Driancourt; Nicole Raynaud; Michelle Hadchouel; Michè 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 23 KB 👁 2 views

Mutations in the human JAGGED1 gene cause Alagille syndrome, an autosomal dominant developmental disorder. The gene encodes a transmembrane protein which is a ligand of Notch receptors. We report 23 mutations in previously undescribed probands, including 15 novel mutations and 8 recurrent mutations.

Mutation analysis of the M6b gene in pat

Mutation analysis of the M6b gene in patients with Rett syndrome

✍ Narayanan, Vinodh; Olinsky, Shari; Dahle, Elizabeth; Naidu, Sakkubai; Zoghbi, Hu 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 22 KB 👁 2 views

Human Xp22.2 has been proposed as a candidate region for the Rett syndrome (RTT) gene. M6b, a member of the proteolipid protein gene family, was mapped to Xp22.2 within one of the RTT candidate regions. In this article we describe the structure of the M6b gene, refine the physical mapping of M6b bet

Mutation screening of the HDC gene in Ch

Mutation screening of the HDC gene in Chinese Han patients with Tourette syndrome

✍ Jing Lei; Xiong Deng; Jie Zhang; Linyan Su; Hongbo Xu; Hui Liang; Xian Huang; Zh 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 98 KB 👁 2 views

Characterization of six novel mutations

Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria

✍ Sahar Sibani; Benedicte Christensen; Erin O'Ferrall; Irfan Saadi; François Hiou- 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 257 KB 👁 2 views

## Communicated by Mark Paalman Severe deficiency of methylenetetrahydrofolate reductase (MTHFR) is the most common inborn error of folate metabolism. Patients are characterized by severe hyperhomocysteinemia, homocystinuria and a variety of neurological and vascular problems. Eighteen rare mutatio

Two novel mutations ofPTEN gene in Japan

Two novel mutations ofPTEN gene in Japanese patients with Cowden syndrome

✍ Sawada, Takeshi ;Okada, Toshihide ;Miwa, Kazuhiro ;Satoh, Hiro ;Asano, Akimichi 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 90 KB 👁 2 views