IL-12Rβ1 deficiency: Mutation update and description of the IL12RB1 variation database

Human Mutation

Volumn 34, Issue 10, 2013, Pages 1329-1339

  van de Vosse, Esther ^a   Haverkamp, Margje H ^a   Ramirez Alejo, Noe ^b   Martinez Gallo, Mónica ^c   Blancas Galicia, Lizbeth ^d   Metin, Ayşe ^e   Garty, Ben Zion ^f   Sun Tan, Çaǧman ^g   Broides, Arnon ^h   de Paus, Roelof A ^a   Keskin, Özlem ⁱ   Çaǧdaş, Deniz ^g   Tezcan, Ilhan ^g   Lopez Ruzafa, Encarna ^j   Aróstegui, Juan I ^k   Levy, Jacov ^h   Espinosa Rosales, Francisco J ^d   Sanal, Özden ^g   Santos Argumedo, Leopoldo ^b   Casanova, Jean Laurent ^l,m   Boisson Dupuis, Stephanie ^l,m   van Dissel, Jaap T ^a   Bustamante, Jacinta ^m,n   more..

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b DEPARTAMENTO DE FÍSICA   (Mexico)

^c HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^d INSTITUTO NACIONAL DE PEDIATRÍA   (Mexico)

^e Pediatric Immunology and Allergy Department   (Turkey)

^f TEL AVIV UNIVERSITY   (Israel)

^g HACETTEPE UNIVERSITY   (Turkey)

^h BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

ⁱ GAZIANTEP UNIVERSITY   (Turkey)

^j HOSPITAL TORRECÁRDENAS   (Spain)

^k INSTITUT D INVESTIGACIONS BIOMÈDIQUES AUGUST PI I SUNYER IDIBAPS   (Spain)

^l ROCKEFELLER UNIVERSITY   (United States)

^m IMAGINE INSTITUTE   (France)

ⁿ HÔPITAL NECKER ENFANTS MALADES   (France)

more..

Author keywords

IL 12R 1 deficiency; IL12RB1; Mendelian susceptibility to mycobacterial disease

Indexed keywords

INTERLEUKIN 12 RECEPTOR BETA1; INTERLEUKIN 23 RECEPTOR;

ALLELE; ARTICLE; DATA BASE; DNA SEQUENCE; FRAMESHIFT MUTATION; GENE MUTATION; HUMAN; MOLECULAR GENETICS; MORBIDITY; MYCOBACTERIUM; NONSENSE MUTATION; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN STRUCTURE; SALMONELLA; STOP CODON;

CORYNEBACTERINEAE; SALMONELLA;

IL-12RΒ1 DEFICIENCY; IL12RB1; MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASE;

DATABASES, GENETIC; FOUNDER EFFECT; GENES, RECESSIVE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; MUTATION; PENETRANCE; POLYMORPHISM, GENETIC; RECEPTORS, INTERLEUKIN-12;

EID: 84884534194     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22380     Document Type: Article

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