(PDF) Clinical Exome Sequencing Identifies a Novel TUBB4A

Clinical Exome Sequencing Identifies a Novel TUBB4A Mutation in a Child With Static Hypomyelinating Leukodystrophy

Pediatric Neurology - United States

doi 10.1016/j.pediatrneurol.2014.01.051

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Date

June 1, 2014

Authors

Shawn M. Purnell

Steven B. Bleyl

Joshua L. Bonkowsky

Publisher

Elsevier BV

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Clinical Exome Sequencing Identifies a Novel TUBB4A Mutation in a Child With Static Hypomyelinating Leukodystrophy

Pediatric Neurology - United States

doi 10.1016/j.pediatrneurol.2014.01.051

Full Text

Abstract

Categories

Date

Authors

Publisher

Related search

Exome Sequencing Identifies a Novel MAP3K14 Mutation in Recessive Atypical Combined Immunodeficiency

Exome Sequencing Identifies a Novel SMCHD1 Mutation in Facioscapulohumeral Muscular Dystrophy 2

Whole Exome Sequencing Identifies a Novel Dominant Missense Mutation Underlying Leukonychia in a Pakistani Family

Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation inBBS2Gene in a Family With Bardet-Biedl Syndrome

Whole-Exome Sequencing Identifies a Potential TTN Mutation in a Multiplex Family With Inguinal Hernia

Whole‑exome Sequencing Identifies a Novel Mutation (R367G) in SCN5A to Be Associated With Familial Cardiac Conduction Disease

Whole Exome Sequencing Identifies a Novel Hedgehog-Interacting Protein G516R Mutation in Locally Advanced Papillary Thyroid Cancer

Exome Sequencing Identifies a DYNC1H1 Mutation in a Large Pedigree With Dominant Axonal Charcot-Marie-Tooth Disease

Correction: Whole-Exome Sequencing Identifies a Novel CCDC151 Mutation, C.325GT (p.E109X), in a Patient With Primary Ciliary Dyskinesia and Situs Inversus