Novel mutations in genes causing hereditary spastic...

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Genetics in Medicine 2015 / 10

Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing

Kancheva, Daliya, Atkinson, Derek, De Rijk, Peter, Zimon, Magdalena, Chamova, Teodora, Mitev, Vanyo, Yaramis, Ahmet, Maria Fabrizi, Gian, Topaloglu, Haluk, Tournev, Ivailo, Parma, Yesim, Battaloglu, E
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Language:
english
Journal:
Genetics in Medicine
DOI:
10.1038/gim.2015.139
Date:
October, 2015
File:
PDF, 990 KB
english, 2015
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