Distal truncation of KCC3 in non-French Canadian HMSN/ACC families

Neurology

Volumn 69, Issue 13, 2007, Pages 1350-1355

  Salin Cantegrel, A ^a   Riviere J B ^a   Dupre N ^b   Charron, F M ^c   Shekarabi, M ^a   Karemera L ^a   Gaspar, C ^a   Horst, J ^d   Tekin, M ^e   Deda, G ^e   Krause, A ^f   Lippert, M M ^f   Willemsen, M A A P ^g   Jarrar, R ^h   Lapointe, J Y ^c   Rouleau, G A ^a  

^a NOTRE DAME HOSPITAL   (Canada)

^b LAVAL UNIVERSITY   (Canada)

^c UNIVERSITÉ DE MONTRÉAL   (Canada)

^d UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^e ANKARA UNIVERSITY   (Turkey)

^f UNIVERSITY OF THE WITWATERSRAND   (South Africa)

^g RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^h GILLETTE CHILDREN'S SPECIALTY HEALTHCARE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COTRANSPORTER; POTASSIUM CHLORIDE;

ANIMAL CELL; ARTICLE; CONTROLLED STUDY; CORPUS CALLOSUM AGENESIS; DISEASE SEVERITY; EXON; GENE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN CELL; MEDICAL ASSESSMENT; MUTATIONAL ANALYSIS; NONHUMAN; POTASSIUM CHLORIDE COTRANSPORTER 3 GENE; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN LOCALIZATION; PROTEIN TRANSPORT; SCREENING TEST; SEQUENCE ANALYSIS; XENOPUS LAEVIS;

ANIMALS; CELL MEMBRANE; CORPUS CALLOSUM; DNA MUTATIONAL ANALYSIS; EUROPEAN CONTINENTAL ANCESTRY GROUP; EXONS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; GENOTYPE; HAPLOTYPES; HEREDITARY SENSORY AND AUTONOMIC NEUROPATHIES; HUMANS; INHERITANCE PATTERNS; MALE; MUTATION; NERVOUS SYSTEM MALFORMATIONS; OOCYTES; PEDIGREE; QUEBEC; SYMPORTERS; XENOPUS LAEVIS;

EID: 34748886205     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000291779.35643.15     Document Type: Article

References (15)

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