Congenital insensitivity to pain: Novel SCN9A missense and in-frame deletion mutations

Human Mutation

Volumn 31, Issue 9, 2010, Pages

  Cox, James J ^a   Sheynin, Jony ^b   Shorer, Zamir ^b   Reimann, Frank ^a   Nicholas, Adeline K ^a   Zubovic, Lorena ^c   Baralle, Marco ^c   Wraige, Elizabeth ^d   Manor, Esther ^b   Levy, Jacov ^b   Woods, C Geoffery ^a   Parvari, Ruti ^b  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

^c INTERNATIONAL CENTRE FOR GENETIC ENGINEERING AND BIOTECHNOLOGY   (Italy)

^d GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

Channelopathy; Congenital insensitivity to pain; SCN9A; Sodium channel Nav1.7

Indexed keywords

MUTANT PROTEIN; SODIUM CHANNEL NAV1.7;

ABRASION; ADOLESCENT; ANIMAL CELL; ARTICLE; BASEMENT MEMBRANE; BURN; CASE REPORT; CELL STRAIN; CELLULITIS; CHILD; CONGENITAL ANALGESIA; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; CORNEA REFLEX; DIAGNOSTIC ERROR; ELECTRON MICROSCOPY; EMBRYO; ERYTHEMA; FALLING; FINGER FRACTURE; GENE DELETION; GENE MAPPING; GENETIC TRANSFECTION; HAPLOTYPE; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; ISRAEL; LOSS OF FUNCTION MUTATION; LYMPHOBLASTOID CELL; MISSENSE MUTATION; MOTOR NERVE CONDUCTION; NERVE BIOPSY; NONHUMAN; OSTEOMYELITIS; PEDIGREE ANALYSIS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN LOCALIZATION; RAT; SCHWANN CELL; SHOULDER FRACTURE; SURAL NERVE; TIBIA FRACTURE; TONGUE ULCER; WILD TYPE;

ANIMALS; CELL MEMBRANE; DNA MUTATIONAL ANALYSIS; ELECTROPHYSIOLOGICAL PHENOMENA; ETHNIC GROUPS; FEMALE; GREAT BRITAIN; HEK293 CELLS; HUMANS; ISRAEL; MALE; MUTANT PROTEINS; MUTATION, MISSENSE; PAIN INSENSITIVITY, CONGENITAL; PC12 CELLS; PEDIGREE; RATS; READING FRAMES; SEQUENCE DELETION; SODIUM CHANNELS; TRANSFECTION;

EID: 77956279238     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21325     Document Type: Article

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