Associated Papers
SDHA Germline Mutations in SDH-Deficient GISTs: A Current Update.
Schipani A et al.
Genes, 2023
Succinate dehydrogenase variants in paraganglioma: why are B subunit variants 'bad'?
Gruber LM et al.
Endocrine Oncology (bristol, England), 2023
37434649 (PubMed )
Supplement: supplementary_table_1.xlsx › Missense_Variants
Clinical Presentations and Genetic Characteristics of Late-Onset MADD Due to ETFDH Mutations in Five Patients: A Case Series.
Tang Z et al.
Frontiers in Neurology, 2021
Expression and functional characterization of two natural heparin-binding site variants of antithrombin.
Dinarvand P et al.
Journal of Thrombosis and Haemostasis : Jth, 2018
Severe sensory neuropathy in patients with adult-onset multiple acyl-CoA dehydrogenase deficiency.
Wang Z et al.
Neuromuscular Disorders : Nmd, 2016
Riboflavin-responsive multiple Acyl-CoA dehydrogenation deficiency in 13 cases, and a literature review in mainland Chinese patients.
Zhu M et al.
Journal of Human Genetics, 2014
Amelioration of the severity of heparin-binding antithrombin mutations by posttranslational mosaicism.
Martínez-Martínez I et al.
Blood, 2012
Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening.
Alfardan J et al.
Molecular Genetics and Metabolism, 2010
Isolation and characterization of dominant dwarf mutants, Slr1-d, in rice.
Asano K et al.
Molecular Genetics and Genomics : Mgg, 2009
Importance of Leu99 in transmembrane segment M1 of the Na+, K+ -ATPase in the binding and occlusion of K+.
Einholm AP et al.
The Journal of Biological Chemistry, 2007
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