Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia.

Hereditary ataxia and spastic paraplegia are heterogeneous monogenic neurodegenerative disorders. To date, a large number of individuals with such disorders remain undiagnosed. Here, we have assessed molecular diagnosis by gene panel sequencing in 105 early and late-onset hereditary ataxia and spast...

पूर्ण विवरण

ग्रंथसूची विवरण

मुख्य लेखकों:	Zafar Iqbal, Siri L Rydning, Iselin M Wedding, Jeanette Koht, Lasse Pihlstrøm, Aina H Rengmark, Sandra P Henriksen, Chantal M E Tallaksen, Mathias Toft
स्वरूप:	Artigo
भाषा:	Inglês
प्रकाशित:	Public Library of Science (PLoS) 2017-01-01
श्रृंखला:	PLoS ONE
ऑनलाइन पहुंच:	http://europepmc.org/articles/PMC5375131?pdf=render
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