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Charcot-Marie-Tooth neuropathy type 1A mutation: Apparent crossovers with D17S122 are due to a duplication

✍ Scribed by Nicholson, Garth A. ;Kennerson, Marina L. ;Keats, Bronya J. B. ;Mesterovic, Nikola ;Churcher, Wayne ;Barker, David ;Ross, David A.


Book ID
102702093
Publisher
John Wiley and Sons
Year
1992
Tongue
English
Weight
510 KB
Volume
44
Category
Article
ISSN
0148-7299

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Clinical and pathological correlations i
✍ Gian Maria Fabrizi; Alessandro Simonati; Michela Morbin; Tiziana Cavallaro; Fede 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 566 KB

In a cross-sectional, clinical, and morphometric analysis we assessed the correlation between the clinical and pathological evolution of disease in 20 unrelated patients of various ages affected by Charcot-Marie-Tooth neuropathy type 1A (CMT1A) with the 17p11.2p12 (peripheral myelin protein 22, PMP2