(PDF) GCH1 Heterozygous Mutation Identified by Whole-Exome

GCH1 Heterozygous Mutation Identified by Whole-Exome Sequencing as a Treatable Condition in a Patient Presenting With Progressive Spastic Paraplegia

Journal of Neurology - Germany

doi 10.1007/s00415-014-7265-3

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February 8, 2014

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Springer Science and Business Media LLC

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GCH1 Heterozygous Mutation Identified by Whole-Exome Sequencing as a Treatable Condition in a Patient Presenting With Progressive Spastic Paraplegia

Journal of Neurology - Germany

doi 10.1007/s00415-014-7265-3

Full Text

Abstract

Categories

Date

Authors

Publisher

Related search

A De Novo Heterozygous Frameshift Mutation Identified in BCL11B Causes Neurodevelopmental Disorder by Whole Exome Sequencing

Whole Exome Sequencing Identified a Novel Heterozygous Mutation in HMBS Gene in a Chinese Patient With Acute Intermittent Porphyria With Rare Type of Mild Anemia

Whole‐exome Sequencing Identified a Novel Variant in an Iranian Patient Affected by Pycnodysostosis

Novel Homozygous GBA2 Mutation in a Patient With Complicated Spastic Paraplegia

A Rare ANOS1 Variant in Siblings With Kallmann Syndrome Identified by Whole Exome Sequencing

Whole-Exome Sequencing to Identify the Cause of Congenital Sensorineural Hearing Loss in Carriers of a Heterozygous GJB2 Mutation

Exome Sequencing Reveals a Heterozygous OAS3 Mutation in a Chinese Family With Juvenile-Onset Open-Angle Glaucoma

Exome Sequencing Identified a Missense Mutation ofEPS8L3in Marie Unna Hereditary Hypotrichosis

Spastic Paraplegia With SPG11 Gene delE39 in a Turkish Patient