New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: A novel mutation underlies both syndromes

American Journal of Human Genetics

Volumn 70, Issue 6, 2002, Pages 1498-1506

  Dodé, Catherine ^a   Le Dû, Nathalie ^a   Cuisset, Laurence ^a   Letourneur, Frank ^b   Berthelot, Jean Marie ^e   Vaudour, Gérard ^f   Meyrier, Alain ^c   Watts, Richard A ^g   David Scott, G I ^g   Nicholls, Anne ^h   Granel, Brigitte ⁱ   Frances, Camille ^d   Garcier, François ^j   Edery, Patrick ^k   Boulinguez, Serge ^l   Domergues, Jean Paul ^m   Delpech, Marc ^a   Grateau, Gilles ^d  

^a INSERM   (France)

^b INSTITUT COCHIN   (France)

^c Service de N phrologie   (France)

^d Unit d'Oncologie Mdicale   (France)

^e Service de Rhumatologie   (France)

^f CENTRE HOSPITALIER   (France)

^g IPSWICH HOSPITAL   (United Kingdom)

^h WEST SUFFOLK HOSPITAL   (United Kingdom)

ⁱ TIMONE HOSPITAL   (France)

^j Service de Dermatologie   (France)

^k Service de G n tique   (France)

^l DUPUYTREN UNIVERSITY HOSPITAL   (France)

^m Service de diatrie   (France)

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Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGED; ALGERIA; AMYLOIDOSIS; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHILD; CIAS1 GENE; CLINICAL ARTICLE; CLINICAL FEATURE; COLD EXPOSURE; COLD URTICARIA; CONTROLLED STUDY; ETHNIC DIFFERENCE; EXON; FAMILY STUDY; FEMALE; FRANCE; GENE; GENE MUTATION; HUMAN; INFLAMMATION; MALE; MODIFIER GENE; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PERCEPTION DEAFNESS; PHENOTYPE; PRIORITY JOURNAL; UNITED KINGDOM; WELLS SYNDROME;

EID: 18344385660     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/340786     Document Type: Article

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