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Charcot-Marie-Tooth disease type 1A: the parental origin of a de novo 17p11.2-p12 duplication

✍ Scribed by Jens Michael Hertz; Anders D. Børglum; Carsten A. Brandt; Tracey Flint; Carsten Bisgaard

Book ID
115091550
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
435 KB
Volume
46
Category
Article
ISSN
0009-9163

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Charcot-Marie-Tooth disease 1A (CMT1A) a
Charcot-Marie-Tooth disease 1A (CMT1A) associated with a maternal duplication of chromosome 17p11.2→12
✍ M. Upadhyaya; S. H. Roberts; J. Farnham; J. C. MacMillan; A. Clarke; J. P. Heath 📂 Article 📅 1993 🏛 Springer 🌐 English ⚖ 340 KB

We report here the second case of Charcot-Marie-Tooth disease 1A (CMT1A) with a cytogenetically visible de novo direct duplication of 17p11.1-->17p12. A male child who was initially referred for developmental delay and dysmorphism was subsequently shown to have significantly reduced motor nerve cond

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