Wolcott-Rallison syndrome: Clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity

Diabetes

Volumn 53, Issue 7, 2004, Pages 1876-1883

  Senée, Valérie ^a   Vattem, Krishna M ^b   Delépine, Marc ^c   Rainbow, Lynn A ^d   Haton, Céline ^e,o   Lecoq, Annick ^f   Shaw, Nick J ^g   Robert, Jean Jacques ^e   Rooman, Raoul ^h   Diatloff Zito, Catherine ^e   Michaud, Jacques L ⁱ   Bin Abbas, Bassan ^j   Taha, Doris ^j   Zabel, Bernard ^k   Franceschini, Piergiorgio ^l   Topaloglu, A Kemal ^m   Lathrop, G Mark ^c   Barrett, Timothy G ^d   Nicolino, Marc ^f   Wek, Ronald C ^b   Julier, Cécile ^a,n   more..

^a INSTITUT PASTEUR   (France)

^b INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c CENTRE NATIONAL DE GÉNOTYPAGE   (France)

^d UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^e HÔPITAL NECKER ENFANTS MALADES   (France)

^f HÔPITAL DEBROUSSE   (France)

^g BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^h ANTWERP UNIVERSITY HOSPITAL   (Belgium)

ⁱ UNIVERSITY OF MONTREAL   (Canada)

^j KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^k JOHANNES GUTENBERG UNIVERSITY   (Germany)

^l Servizio di Genetica Clinica   (Italy)

^m CUKUROVA UNIVERSITY   (Turkey)

ⁿ Genet Maladies Infect/Autoimmunes   (France)

^o INSTITUT DE RADIOPROTECTION ET DE SÛRETÉ NUCLÉAIRE IRSN   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

EUKARYOTIC INITIATION FACTOR 2ALPHA KINASE; INITIATION FACTOR; MUTANT PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; EIF2AK3 GENE; EPIPHYSIOLYSIS; GENE; GENE ACTIVITY; GENE FUNCTION; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC LINKAGE; GROWTH RETARDATION; HUMAN; INFANT; INSULIN DEPENDENT DIABETES MELLITUS; MISSENSE MUTATION; ONSET AGE; PRIORITY JOURNAL; RARE DISEASE; WOLCOTT RALLISON SYNDROME;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; DIABETES MELLITUS, TYPE 1; DWARFISM; EIF-2 KINASE; GENES, RECESSIVE; GENETIC HETEROGENEITY; HUMANS; INFANT; MUTATION; MUTATION, MISSENSE; OSTEOCHONDRODYSPLASIAS; PEDIGREE; SYNDROME;

EID: 3042696843     PISSN: 00121797     EISSN: None     Source Type: Journal    
DOI: 10.2337/diabetes.53.7.1876     Document Type: Article

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