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Isolation of Novel Genes from the CMT1A Duplication/HNPP Deletion Critical Region in 17p11.2–p12

✍ Scribed by Tatsufumi Murakami; Zhong S. Sun; Cheng Chi Lee; James R. Lupski

Book ID
115613604
Publisher
Elsevier Science
Year
1997
Tongue
English
Weight
84 KB
Volume
39
Category
Article
ISSN
0888-7543

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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