Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations

Clinical Genetics

Volumn 71, Issue 4, 2007, Pages 311-319

  Goldberg, Yigal Paul ^a,b   Macfarlane, J ^a   Macdonald, M L ^a   Thompson, J ^a   Dube, M P ^l   Mattice, M ^a   Fraser, R ^a   Young, C ^a   Hossain, S ^a   Pape, T ^a   Payne, B ^a   Radomski, C ^a   Donaldson, G ^a   Ives, E ^c   Cox, J ^c   Younghusband, H B ^c   Green, R ^c   Duff, A ^c   Boltshauser, E ^d   Grinspan, G A ^e   Dimon, J H ^f   Sibley, B G ^g   Andria, G ^h   Toscano, E ⁱ   Kerdraon, J ^j   Bowsher, D ^k   Pimstone, S N ^a   Samuels, M E ^a,l   Sherrington, R ^a   Hayden, M R ^a,j   more..

^a Xenon Pharmaceuticals Inc   (Canada)

^b MONTREAL HEART INSTITUTE   (Canada)

^c MEMORIAL UNIVERSITY OF NEWFOUNDLAND   (Canada)

^d UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^e Clinica Regional Del Sud   (Argentina)

^f Peachtree Orthopedic Clinic   (United States)

^g University Federico II of Naples ^*  (United States)

^h UNIVERSITY OF NAPLES FEDERICO II   (Italy)

ⁱ Reeducation et Readaptation Fonctionnelles   (France)

^j UNIVERSITY HOSPITAL AINTREE   (United Kingdom)

^k UNIVERSITÉ DE MONTRÉAL   (Canada)

^l UNIVERSITY OF BRITISH COLUMBIA   (Canada)

more..

Author keywords

CIP (Congenital Indifference to Pain); Genetics; HSAN; Mutation; Nav1.7; Pain; SCN9A; Sodium channel

Indexed keywords

UNCLASSIFIED DRUG; VOLTAGE GATED SODIUM CHANNEL; VOLTAGE GATED SODIUM CHANNEL NAV1.7;

ADULT; ARTICLE; CHILD; CHROMOSOME 2Q; CONGENITAL ANALGESIA; CONTROLLED STUDY; DNA EXTRACTION; FAMILY; GENE LOCATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; HAPLOTYPE; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL;

EID: 34247874778     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2007.00790.x     Document Type: Article

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