Wolcott-Rallison syndrome: Pathogenic insights into neonatal diabetes from new mutation and expression studies of EIF2AK3

Journal of Medical Genetics

Volumn 40, Issue 9, 2003, Pages 685-689

  Brickwood, S ^a   Bonthron, D T ^b   Al Gazali, L I ^c   Piper, K ^a   Hearn, T ^a   Wilson, D I ^a   Hanley, Neil A ^a,d  

^a UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^b UNIVERSITY OF LEEDS   (United Kingdom)

^c UNITED ARAB EMIRATES UNIVERSITY   (United Arab Emirates)

^d SOUTHAMPTON GENERAL HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DNA POLYMERASE; GENOMIC DNA; INITIATION FACTOR; INITIATION FACTOR 2 ALPHA KINASE 3; UNCLASSIFIED DRUG;

APOPTOSIS; ARTICLE; AUTOPSY; AUTOSOMAL RECESSIVE DISORDER; BRONCHUS MUCOSA; CASE REPORT; CLINICAL FEATURE; CONSANGUINEOUS MARRIAGE; CREATININE BLOOD LEVEL; DIABETES MELLITUS; DISEASE COURSE; ENDOPLASMIC RETICULUM; ENZYME PHOSPHORYLATION; EPITHELIUM CELL; EUKARYOTE; FETUS (ANATOMY); GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GLUCONEOGENESIS; HUMAN; HYPOGLYCEMIA; IMMUNOHISTOCHEMISTRY; KIDNEY FAILURE; LIVER; LIVER INJURY; MALE; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; NERVE CELL NETWORK; NONHUMAN; OSTEOPOROSIS; PANCREAS INSUFFICIENCY; PANCREAS ISLET; PANCREAS ISLET BETA CELL; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; SPONDYLOEPIPHYSEAL DYSPLASIA; TRANSGENIC MOUSE; ULTRASOUND; WOLCOTT RALLISON SYNDROME;

BRONCHUS; EUKARYOTA; MUS MUSCULUS;

EID: 0041328471     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.40.9.685     Document Type: Article

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