Identification of a novel homozygous SPG7 mutation by whole...

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European Journal of Medical Genetics 2015 / 8

Identification of a novel homozygous SPG7 mutation by whole exome sequencing in a Greek family with a complicated form of hereditary spastic paraplegia

Daoud, Hussein, Papadima, Eleni Merkouri, Bencheikh, Bouchra Oulad Amar, Katsila, Theodora, Dionne-Laporte, Alexandre, Spiegelman, Dan, Dion, Patrick A., Patrinos, George P., Orrù, Sandro, Rouleau, Gu
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Language:
english
Journal:
European Journal of Medical Genetics
DOI:
10.1016/j.ejmg.2015.08.001
Date:
August, 2015
File:
PDF, 2.20 MB
english, 2015
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