✦ LIBER ✦

Charcot-Marie-Tooth type 1B neuropathy: third mutation of serine 63 codon in the major peripheral myelin glycoprotein P0 gene

✍ Scribed by Françoise Blanquet-Grossard; Danielle Pham-Dinh; André Dautigny; Philippe Latour; Christine Bonnebouche; Emmanuel Corbillon; Guy Chazot; Antoon Vandenberghe

Book ID: 115091751
Publisher: John Wiley and Sons
Year: 2008
Tongue: English
Weight: 314 KB
Volume: 48
Category: Article
ISSN: 0009-9163
DOI: 10.1111/j.1399-0004.1995.tb04109.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Charcot-Marie-Tooth type 1B neuropathy:

Charcot-Marie-Tooth type 1B neuropathy: A mutation at the single glycosylation site in the major peripheral myelin glycoprotein P0

✍ Françoise Blanquet-Grossard; Danielle Pham-Dinh; André Dautigny; Philippe Latour 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 179 KB 👁 1 views

Deletion of the serine 34 codon from the

Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot–Marie–Tooth disease type 1B

✍ Kulkens, Tanja; Bolhuis, Pieter A.; Wolterman, Ruud A.; Kemp, Stephan; te Nijenh 📂 Article 📅 1993 🏛 Nature Publishing Group 🌐 English ⚖ 466 KB

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

De novo mutation (Arg98→Cys) of the myel

De novo mutation (Arg98→Cys) of the myelin P0 gene and uncompaction of the major dense line of the myelin sheath in a severe variant of Charcot–Marie–Tooth disease type 1B

✍ Atsushi Komiyama; Akio Ohnishi; Katsuhiko Izawa; Shunji Yamamori; Hirofumi Ohash 📂 Article 📅 1997 🏛 Elsevier Science 🌐 English ⚖ 646 KB

Gene dosage sensitivity of a novel mutat

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

✍ Gian Maria Fabrizi; Maria Pellegrini; Chiara Angiari; Tiziana Cavallaro; Alberto 📂 Article 📅 2006 🏛 Elsevier Science 🌐 English ⚖ 298 KB