A novel mutation in the EIF2AK3 gene with variable expressivity in two patients with Wolcott-Rallison syndrome

Clinical Genetics

Volumn 70, Issue 1, 2006, Pages 34-38

  Durocher, Francine ^a   Faure, R ^b   Labrie, Y ^a   Pelletier, L ^b   Bouchard, I ^b   Laframboise, R ^b  

^a UNIVERSITÉ LAVAL   (Canada)

^b LAVAL UNIVERSITY   (Canada)

Author keywords

EIF2AK3 mutation; Neonatal diabetes; Phenotypic variation; Wolcott Rallison syndrome

Indexed keywords

GENOMIC DNA; IRON; PROTEIN KINASE R; PROTEIN KINASE R3; UNCLASSIFIED DRUG;

ANEMIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE DEMINERALIZATION; BONE DYSPLASIA; CASE REPORT; CHILD; CLINICAL FEATURE; DIAGNOSTIC ACCURACY; DISEASE ASSOCIATION; DNA DETERMINATION; DOPPLER ECHOGRAPHY; FATALITY; GENE MUTATION; GENETIC ANALYSIS; GENETIC HETEROGENEITY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INSULIN DEPENDENT DIABETES MELLITUS; LIVER BIOPSY; NONSENSE MUTATION; ONSET AGE; PARENTAL CONSENT; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN ANALYSIS; SEQUENCE ANALYSIS; SPINE RADIOGRAPHY; WOLCOTT RALLISON SYNDROME;

AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CODON, NONSENSE; DIABETES MELLITUS, TYPE 1; DNA; EIF-2 KINASE; EXONS; FEMALE; GENES, RECESSIVE; GROWTH DISORDERS; HUMANS; INFANT, NEWBORN; MALE; OSTEOCHONDRODYSPLASIAS; PHENOTYPE; SYNDROME;

EUKARYOTA;

EID: 33746873327     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2006.00632.x     Document Type: Article

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