Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients
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Title
Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients
Authors
Keywords
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Journal
CLINICAL GENETICS
Volume 80, Issue 2, Pages 148-160
Publisher
Wiley
Online
2011-05-27
DOI
10.1111/j.1399-0004.2011.01715.x
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- Sequence Alterations within CYP7B1 Implicate Defective Cholesterol Homeostasis in Motor-Neuron Degeneration
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- A Missense Mutation in SLC33A1, which Encodes the Acetyl-CoA Transporter, Causes Autosomal-Dominant Spastic Paraplegia (SPG42)
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