A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis

Sandra Strautnieks, Laura N. Bull, Alexander S. Knisely, +16

Nature Genetics

HepatologyBiliary TractNatural SciencesGeneticsLiver Physiology +9

SCN9A Mutations in Paroxysmal Extreme Pain Disorder: Allelic Variants Underlie Distinct Channel Defects and Phenotypes

Caroline Fertleman, Mark D. Baker, Keith A. Parker, +8

Neuron

Allelic VariantMolecular NeuroscienceGenetic DisorderGeneticsPathology +5

Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome

Patricia B. Munroe, Rana Olguntürk, Jean‐Pierre Fryns, +5

Nature Genetics

Autoimmune DiseaseGenetic DisorderGeneticsMolecular GeneticsHla Typing +4

Mutations in Radial Spoke Head Protein Genes RSPH9 and RSPH4A Cause Primary Ciliary Dyskinesia with Central-Microtubular-Pair Abnormalities

Victoria Castleman, Leila Romio, Rahul Chodhari, +21

The American Journal of Human Genetics

Developmental BiologyGeneticsPathologyCentral-microtubular-pair AbnormalitiesNeuropathology +2

Ducky Mouse Phenotype of Epilepsy and Ataxia Is Associated with Mutations in the<i>Cacna2d2</i>Gene and Decreased Calcium Channel Current in Cerebellar Purkinje Cells

J. Elaine Barclay, Nuria Balaguero, Marina Mione, +12

Journal of Neuroscience

A novel spice–site mutation in the γ subunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type 1 families

Sandra Strautnieks, Richard J. Thompson, R. Mark Gardiner, +1

Nature Genetics

Molecular PhysiologySodium HomeostasisGeneticsPhysiologyγ Subunit +4

Targeted Disruption of the Cln3 Gene Provides a Mouse Model for Batten Disease

Hannah M. Mitchison, David J. Bernard, Nicholas D. E. Greene, +11

Neurobiology of Disease

Knockout MouseGenome InstabilityBatten DiseaseCln3 Gene ProvidesGenetics +10

Spectrum of Mutations in the Batten Disease Gene, CLN3

Patricia B. Munroe, Hannah M. Mitchison, Angela O'Rawe, +8

The American Journal of Human Genetics

Batten Disease GeneMedicineGeneticsGenetic DisorderMolecular Genetics +4

DUPLICATIONS OF MITOCHONDRIAL DNA IN MITOCHONDRIAL MYOPATHY

Joanna Poulton, Mary E. Deadman, R. Mark Gardiner

The Lancet

Mitochondrial MyopathyDnaMitochondrial FunctionNatural SciencesGenetics +4

Identification of a Locus for Progressive Familial Intrahepatic Cholestasis PFIC2on Chromosome 2q24

Sandra Strautnieks, Amir F. Kagalwalla, M S Tanner, +6

The American Journal of Human Genetics

HepatologyBiliary TractGenetic DisorderLiver PhysiologyGenetics +5