The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum

Nature Genetics

Volumn 32, Issue 3, 2002, Pages 384-392

  Howard, Heidi C ^a   Mount, David B ^b,c   Rochefort, Daniel ^a   Byun, Nellie ^c   Dupré, Nicolas ^a   Lu, Jianming ^c   Fan, Xuemo ^c   Song, Luyan ^c   Rivière, Jean Baptiste ^a   Prévost, Claude ^d   Horst, Jürgen ^e   Simonati, Alessandro ^f   Lemcke, Beate ^f   Welch, Rick ^c   England, Roger ^c   Zhan, Frank Q ^c   Mercado, Adriana ^b,c   Siesser, William B ^g   George Jr , Alfred L ^c   McDonald, Michael P ^c,g   Bouchard, Jean Pierre ^h   Mathieu, Jean ^d   Delpire, Eric ^c,g   Rouleau, Guy A ^a   more..

^a MONTREAL GENERAL HOSPITAL   (Canada)

^b VA BOSTON HEALTHCARE SYSTEM   (United States)

^c VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

^d Department of Pediatrics and Clinical Research Unit   (Canada)

^e UNIVERSITY OF MÜNSTER   (Germany)

^f UNIVERSITY OF VERONA   (Italy)

^g VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

^h LAVAL UNIVERSITY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

COTRANSPORTER; GENE PRODUCT; PROTEIN KCC3; PROTEIN SLC12A6; UNCLASSIFIED DRUG;

AGENESIS; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CANADA; CHROMOSOME 15Q; CLINICAL FEATURE; CONTROLLED STUDY; CORPUS CALLOSUM; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; DISEASE SEVERITY; FACE DYSMORPHIA; GENE DELETION; GENE EXPRESSION; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; HUMAN; MAJOR CLINICAL STUDY; MENTAL RETARDATION MALFORMATION SYNDROME; PERIPHERAL NEUROPATHY; POPULATION GENETICS; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY;

ANIMALS; BLOTTING, SOUTHERN; BRAIN; CANADA; CHROMOSOMES, HUMAN, PAIR 15; CORPUS CALLOSUM; EXONS; GENE DELETION; GENES, RECESSIVE; HAPLOTYPES; HOMOZYGOTE; HUMANS; IMMUNOBLOTTING; MICE; MICE, KNOCKOUT; MICROSCOPY, FLUORESCENCE; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; MUTATION; OPEN READING FRAMES; PERIPHERAL NERVOUS SYSTEM DISEASES; PHENOTYPE; POLYMORPHISM, GENETIC; RECOMBINATION, GENETIC; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; SODIUM-POTASSIUM-CHLORIDE SYMPORTERS; SPINAL CORD; SYMPORTERS; TIME FACTORS; XENOPUS;

XENOPUS LAEVIS;

EID: 0036843702     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1002     Document Type: Article

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