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Prenatal detection of the 17p11.2 duplication in Charcot-Marie-Tooth disease type 1A: necessity of a multidisciplinary approach for heterogeneous disorders

✍ Scribed by Bernard, Rafaëlle; Boyer, Amandine; Nègre, Philippe; Malzac, Perrine; Latour, Philippe; Vandenberghe, Antoon; Philip, Nicole; Lévy, Nicolas


Book ID
110025225
Publisher
Nature Publishing Group
Year
2002
Tongue
English
Weight
276 KB
Volume
10
Category
Article
ISSN
1018-4813

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The duplication in Charcot-Marie-Tooth d
✍ 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