Associated Papers
A mild skeletal phenotype with overlapping features of Miller syndrome and functional characterisation of two new variants of human dihydroorotate dehydrogenase.
Mero IL et al.
Heliyon, 2024
Assessment of a novel variation in DHODH gene causing Miller syndrome: The first report in Chinese population.
Yang K et al.
Molecular Genetics & Genomic Medicine, 2023
Protein production, kinetic and biophysical characterization of three human dihydroorotate dehydrogenase mutants associated with Miller syndrome.
Orozco Rodriguez JM et al.
Nucleosides, Nucleotides & Nucleic Acids, 2022
Protein-lipid interactions of human dihydroorotate dehydrogenase and three mutants associated with Miller syndrome.
Orozco Rodriguez JM et al.
Nucleosides, Nucleotides & Nucleic Acids, 2022
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
Global Carrier Rates of Rare Inherited Disorders Using Population Exome Sequences.
Fujikura K
Plos One, 2016
Protein instability and functional defects caused by mutations of dihydro-orotate dehydrogenase in Miller syndrome patients.
Fang J et al.
Bioscience Reports, 2012
Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH.
Rainger J et al.
Human Molecular Genetics, 2012
Exome sequencing identifies the cause of a mendelian disorder.
Ng SB et al.
Nature Genetics, 2010
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