𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Identical point mutations of PMP–22 in Trembler–J mouse and Charcot–Marie–Tooth disease type 1A

✍ Scribed by Valentijn, Linda J.; Baas, Frank; Wolterman, Ruud A.; Hoogendijk, Jessica E.; van den Bosch, Norbert H.A.; Zorn, Ina; Gabreëls-Festen, Anneke A.W.M.; de Visser, Marianne; Bolhuis, Pieter A.


Book ID
109918812
Publisher
Nature Publishing Group
Year
1992
Tongue
English
Weight
423 KB
Volume
2
Category
Article
ISSN
1061-4036

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Charcot-Marie-Tooth disease type 1A: mor
✍ A. A. W. M. Gabreëls-Festen; P. A. Bolhuis; J. E. Hoogendijk; L. J. Valentijn; E 📂 Article 📅 1995 🏛 Springer-Verlag 🌐 English ⚖ 949 KB

Charcot-Marie-Tooth disease type 1A (CMT1A) or hereditary motor and sensory neuropathy type Ia (HMSN type Ia) is an autosomal dominant demyelinating polyneuropathy, which may result from duplications as large as 1.5 Mb on chromosome 17p 11.2-p12 encompassing the gene for the peripheral myelin protei

Novel mutations in the Charcot-Marie-Too
✍ Kathrin Huehne; Vladimir Benes; Christian Thiel; Cornelia Kraus; Wolfram Kress; 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 28 KB

Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous disorder of the peripheral nervous system. CMT type 1 is most frequently caused by a 1.4 Mb tandem duplication in chromosome 17p11.2 comprising the peripheral myelin protein 22 (PMP22) gene. Furthermore sequence variatio

Peripheral myelin protein-22 expression
✍ Dr. C. O. Hanemann; G. Stoll; D. D'Urso; W. Fricke; J. J. Martin; C. Van Broeckh 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 695 KB

Peripheral myelin protein-22 (PMP22) is expressed in myelinating Schwann cells and shows significant homology to murine growth arrest-specific gene gas3. Charcot-Marie-Tooth disease type l a (CMTla) is a common hereditary demyelinating neuropathy. Recently it was demonstrated that the gene for PMP22