(PDF) Recessive Mutations in POLR3B, Encoding the Second

Recessive Mutations in POLR3B, Encoding the Second Largest Subunit of Pol III, Cause a Rare Hypomyelinating Leukodystrophy

American Journal of Human Genetics - United States

doi 10.1016/j.ajhg.2011.10.006

Full Text

Abstract

Available in full text

Categories

Date

November 1, 2011

Authors

Martine Tétreault

Umberto Balottin

Martin Teichmann

Sébastien Fribourg

Raphael Schiffmann

Adeline Vanderver

Geneviève Bernard

Publisher

Elsevier BV

Related search

Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy

American Journal of Human Genetics

English

Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy P415

American Journal of Human Genetics

English

Mutations in LNPK , Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome

American Journal of Human Genetics

English

Bi-Allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex

American Journal of Human Genetics

English

Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly

American Journal of Human Genetics

English

De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy

American Journal of Human Genetics

English

Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood

American Journal of Human Genetics

English

Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy

American Journal of Human Genetics

English

Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability

American Journal of Human Genetics

English