Associated Papers
Expanding the phenotypic spectrum of non-alcoholic fatty liver disease and hypertriglyceridemia.
Meroni M et al.
Frontiers in Nutrition, 2022
Cronkhite-Canada syndrome complicated with three malignant tumors: a case report and whole exome sequencing analysis.
Liu S et al.
Chinese Medical Journal, 2019
31764169 (PubMed )
Supplement: cm9-132-3001-s001.xlsx › Supplementary_Table_1
Three-Dimensional Model of Human Nicotinamide Nucleotide Transhydrogenase (NNT) and Sequence-Structure Analysis of its Disease-Causing Variations.
Metherell LA et al.
Human Mutation, 2016
Whole-Exome Sequencing in the Differential Diagnosis of Primary Adrenal Insufficiency in Children.
Chan LF et al.
Frontiers in Endocrinology, 2015
Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency.
Meimaridou E et al.
Nature Genetics, 2012
22634753 (PubMed )
Supplement: NIHMS48043-supplement-1.pdf
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