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注意：仅列出部分参考文献，下载原文获取全部文献信息。Wolcott-Rallison syndrome associated with congenital malformations and a mosaic deletion 15q 11-12
F.J. Stewart et al.
CLINICAL GENETICS (2010)
Wolcott-Rallison syndrome -: Clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity
V Senée et al.
DIABETES (2004)
Wolcott-Rallison syndrome: pathogenic insights into neonatal diabetes from new mutation and expression studies of EIF2AK3
S Brickwood et al.
JOURNAL OF MEDICAL GENETICS (2003)
Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to β-subunit mutations
U Spiekerkoetter et al.
HUMAN MUTATION (2003)
Wolcott-Rallison syndrome in two siblings with isolated central hypothyroidism
B Bin-Abbas et al.
AMERICAN JOURNAL OF MEDICAL GENETICS (2002)
Loss of kinase activity in a patient with Wolcott-Rallison syndrome caused by a novel mutation in the EIF2AK3 gene
A Biason-Lauber et al.
DIABETES (2002)
The PERK eukaryotic initiation factor 2α kinase is required for the development of the skeletal system, postnatal growth, and the function and viability of the pancreas
PC Zhang et al.
MOLECULAR AND CELLULAR BIOLOGY (2002)
Translational control is required for the unfolded protein response and in vivo glucose homeostasis
D Scheuner et al.
MOLECULAR CELL (2001)
Diabetes mellitus and exocrine pancreatic dysfunction in Perk-/- mice reveals a role for translational control in secretory cell survival
HP Harding et al.
MOLECULAR CELL (2001)
Wolcott-Rallison syndrome:: a case with endocrine and exocrine pancreatic deficiency and pancreatic hypotrophy
P Castelnau et al.
EUROPEAN JOURNAL OF PEDIATRICS (2000)
EIF2AK3, encoding translation initiation factor 2-α kinase 3, is mutated in patients with Wolcott-Rallison syndrome
M Delépine et al.
NATURE GENETICS (2000)
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