𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Mosaicism for the Charcot-Marie-Tooth disease type 1A duplication suggests somatic reversion

✍ Scribed by T. Liehr; B. Rautenstrauss; Holger Grehl; Klaus Dieter Bathke; Arif Ekici; Anita Rauch; Hans-Dieter Rott

Publisher
Springer
Year
1996
Tongue
English
Weight
143 KB
Volume
98
Category
Article
ISSN
0340-6717

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Charcot-Marie-Tooth disease type 1A: mor
Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication versus PMP22 point mutations
✍ 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

The duplication in Charcot-Marie-Tooth d
The duplication in Charcot-Marie-Tooth disease type 1a spans at least 1100 kb on chromosome 17p11.2
✍ Jessica E. Hoogendijk; Gerard W. Hensels; Ina Zorn; Linda Valentijn; Emiel A. M. 📂 Article 📅 1991 🏛 Springer 🌐 English ⚖ 723 KB

Recently, it has been shown that Charcot-Marie-Tooth disease type 1a (CMT1a) is linked with a duplication of a DNA segment that is detected by probe VAW409R3, and that is located on chromosome 17p11.2. Here, we show that this duplication also contains VAW412R3a, but not A10-41 and EW503. Accounting