✦ LIBER ✦

Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B

✍ Scribed by Gian Maria Fabrizi; Maria Pellegrini; Chiara Angiari; Tiziana Cavallaro; Alberto Morini; Federica Taioli; Ilaria Cabrini; Daniele Orrico; Nicolò Rizzuto

Book ID: 116792416
Publisher: Elsevier Science
Year: 2006
Tongue: English
Weight: 298 KB
Volume: 16
Category: Article
ISSN: 0960-8966
DOI: 10.1016/j.nmd.2006.01.006

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Charcot–Marie–Tooth neuropathy type 1B i

Charcot–Marie–Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene

✍ Hayasaka, Kiyoshi; Himoro, Masato; Sato, Wataru; Takada, Goro; Uyemura, Keiichi; 📂 Article 📅 1993 🏛 Nature Publishing Group 🌐 English ⚖ 386 KB

Heterozygous Null Mutation in the P0 Gen

Heterozygous Null Mutation in the P0 Gene Associated with Mild Charcot-Marie-Tooth Disease

✍ D. PAREYSON; D. MENICHELLA; S. BOTTI; A. SGHIRLANZONI; E. FALLICA; M. MORA; C. C 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 869 KB

Novel mutation of the myelin Po gene in

Novel mutation of the myelin Po gene in a pedigree with Charcot-Marie-Tooth disease type 1b

✍ Ikegami, Tohru; Ikeda, Hiroyuki; Mitsui, Tetsuo; Hayasaka, Kiyoshi; Ishii, Shoug 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 15 KB 👁 2 views

Mutations in the myelin protein zero gen

Mutations in the myelin protein zero gene associated with Charcot-Marie-Tooth disease type 1B

✍ Philippe Latour; Françoise Blanquet; Eva Nelis; Christine Bonnebouche; Fraņoise 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 437 KB

Communicated by Jean-Louis Mandel Charcot-Marie-Tooth type 1 (CMT1) disease is an autosomal dominant neuropathy of the peripheral nerve. The majority of CMT 1 cases are due to a duplication of an 1.5-Mb DNA fragment on chromosome 17pl1.2 (CMT la). Micromutations were found in the gene for peripheral

A novel Gly137AspMPZmutation in a Charco

A novel Gly137AspMPZmutation in a Charcot-Marie-Tooth disease type 1B family

✍ Eun Kyung Park; Ki Wha Chung; Kyu Sun Lee; Hye Jin Lee; Bo Ram Yun; Je-Nyun Kim; 📂 Article 📅 2011 🏛 The Genetics Society of Korea 🌐 English ⚖ 300 KB

A novel missense mutation in the early g

A novel missense mutation in the early growth response 2 gene associated with late-onset Charcot–Marie–Tooth disease type 1

✍ Tsuyoshi Yoshihara; Fumio Kanda; Masahiko Yamamoto; Hiroyuki Ishihara; Ken-ichir 📂 Article 📅 2001 🏛 Elsevier Science 🌐 English ⚖ 738 KB