(PDF) A Founder Mutation in VPS11 Causes an Autosomal

A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects

PLoS Genetics - United States

doi 10.1371/journal.pgen.1005848

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A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects

PLoS Genetics - United States

doi 10.1371/journal.pgen.1005848

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Related search

Mutation in Kallikrein 4 Causes Autosomal Recessive Hypomaturation Amelogenesis Imperfecta

Mitochondrial Hsp60 Chaperonopathy Causes an Autosomal-Recessive Neurodegenerative Disorder Linked to Brain Hypomyelination and Leukodystrophy

A Splice Mutation in a Syrian Autosomal Recessive Hypercholesterolemia Family Causes a Two-Nucleotide Deletion of mRNA

Mutation of COL11A2 Causes Autosomal Recessive Non-Syndromic Hearing Loss at the DFNB53 Locus

INPP5K Variant Causes Autosomal Recessive Congenital Cataract in a Pakistani Family

An Autosomal Recessive Form of Alagille-Like Syndrome That Is Not Linked to JAG1

Genome-Wide Linkage Analysis of an Autosomal Recessive Hypotrichosis Identifies a Novel P2RY5 Mutation

A Novel Missence Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis Patient

Exome Sequencing Identifies a Founder Frameshift Mutation in an Alternative Exon of USH1C as the Cause of Autosomal Recessive Retinitis Pigmentosa With Late-Onset Hearing Loss