Associated Papers
Independent COL5A1 Variants in Cats with Ehlers-Danlos Syndrome.
Kiener S et al.
Genes, 2022
35627182 (PubMed )
Supplement: genes-13-00797-s001.zip › Table_S4_Private_Variants.xlsx › priv.het.prot.chang.var._case_1
Critical appraisal of genotype assessment in molybdenum cofactor deficiency.
Hinderhofer K et al.
Journal of Inherited Metabolic Disease, 2017
Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency.
Mills PB et al.
Journal of Inherited Metabolic Disease, 2012
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