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cystathioninuria
(phenotype)
Summary
General Info
Genetic Markers
Most Correlated Genes
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CTH
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
regulation of aortic smooth muscle cell differentiation
Cys/Met metabolism, pyridoxal phosphate-dependent enzyme
protein sulfhydration
positive regulation of aortic smooth muscle cell differentiation
L-cystine L-cysteine-lyase (deaminating)
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OMIM - Congenital disorder
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Literature
Most Relevant Literature
Ancient origin of the CTH alelle carrying the c.200C>T (p.T67I) variant in patients with cystathioni…
Methionine excess in diet induces acute lethal hepatitis in mice lacking cystathionine γ-lyase, an a…
Novel mutation in DGUOK in hepatocerebral mitochondrial DNA depletion syndrome associated with cysta…
Cystathionine γ-lyase].
Cystathionine γ-lyase].
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There were no clinical trials for cystathioninuria
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