𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A 1.5-Mb Cosmid Contig of the CMT1A Duplication/HNPP Deletion Critical Region in 17p11.2–p12

✍ Scribed by Tatsufumi Murakami; James R. Lupski

Book ID
115613207
Publisher
Elsevier Science
Year
1996
Tongue
English
Weight
100 KB
Volume
34
Category
Article
ISSN
0888-7543

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

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

Facilitated diagnosis of CMT1A duplicati
Facilitated diagnosis of CMT1A duplication in chromosome 17p11.2-12: Analysis with a CMT1A-REP repeat probe and photostimulated luminescence imaging
✍ Tohru Ikegami; Hiroyuki Ikeda; Phillip F. Chance; Hidenori Kiyosawa; Masahiko Ya 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 125 KB 👁 2 views

Charcot-Marie-Tooth disease type 1A (CMT1A) is a common autosomal dominant demyelinating peripheral neuropathy. Most patients with CMT1A have been found to have a 1.5 megabase tandem DNA duplication in chromosome 17p11.2-12. Meiotic unequal crossover mediated by the CMT1A-REP repeat is a proposed me