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Gln15 missense mutation in the connexin 32 gene in a CMTX Italian family

✍ Scribed by P. Gobbi; C. Bell; P. Sorgato; P. Conigli; A. Colombo; N. Haites; A. Ferlini


Book ID
117670889
Publisher
Elsevier Science
Year
1997
Tongue
English
Weight
129 KB
Volume
7
Category
Article
ISSN
0960-8966

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## Abstract The purpose was to study the clinical features and genetics of a large Chinese family with Charcot–Marie–Tooth (CMT) disease. A genome‐wide linkage scan using Applied Biosystems v. 2.5 411 short tandem repeat (STR) markers was performed in this family. Mutation screening was conducted o