✦ LIBER ✦

Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency

✍ Scribed by Keiko Ishigaki; Delphine Nicolle; Eric Krejci; Jean-Paul Leroy; Jeanine Koenig; Michel Fardeau; Bruno Eymard; Daniel Hantaı̈

Book ID: 117669703
Publisher: Elsevier Science
Year: 2003
Tongue: English
Weight: 616 KB
Volume: 13
Category: Article
ISSN: 0960-8966
DOI: 10.1016/s0960-8966(02)00243-2

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

COOH-terminal collagen Q (COLQ) mutants

COOH-terminal collagen Q (COLQ) mutants causing human deficiency of endplate acetylcholinesterase impair the interaction of ColQ with proteins of the basal lamina

✍ Arredondo, Juan; Lara, Marian; Ng, Fiona; Gochez, Danielle A.; Lee, Diana C.; Lo 📂 Article 📅 2013 🏛 Springer 🌐 English ⚖ 895 KB

Two Novel Gene Mutations in Type I Antit

Two Novel Gene Mutations in Type I Antithrombin Deficiency

✍ Kenji Niiya; Toru Kiguchi; Hiromichi Dansako; Kingo Fujimura; Takahiro Fujimoto; 📂 Article 📅 2001 🏛 Carden Jennings Publishing 🌐 English ⚖ 421 KB

Twenty two novel mutations of the factor

Twenty two novel mutations of the factor VII gene in factor VII deficiency

✍ Karin Wulff; Falko H. Herrmann 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 222 KB 👁 2 views

Molecular bases of antithrombin deficien

Molecular bases of antithrombin deficiency: twenty-two novel mutations in the antithrombin gene

✍ Véronique Picard; Ulrike Nowak-Göttl; Christine Biron-Andreani; Marc Fouassier; 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 72 KB

## Antithrombin (AT) is a major physiological inhibitor of hemostasis. We report 22 novel antithrombin gene (SERPINC1) mutations associated with antithrombin deficiency in 17 French and five German families. They were all present at the heterozygous state. Nine missense mutations accounted for typ

Triose phosphate isomerase deficiency as

Triose phosphate isomerase deficiency associated with two novel mutations in TPI gene

✍ Elisa Fermo; Paola Bianchi; Cristina Vercellati; David C. Rees; Anna P. Marcello 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 72 KB

Two novel missense mutations in the LDL

Two novel missense mutations in the LDL receptor gene causing familial hypercholesterolemia

✍ Kaja E. Gundersen; Kari Solberg; Olaug K. Rødningen; Serena Tonstad; Leiv Ose; K 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 264 KB