Associated Papers
A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome.
Oud MM et al.
Cilia, 2016
27069622 (PubMed )
Supplement: 13630_2016_29_MOESM1_ESM.xls › Total_variants
Defects in the biosynthesis of mitochondrial heme c and heme a in yeast and mammals.
Moraes CT et al.
Biochimica Et Biophysica Acta, 2004
Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency.
Antonicka H et al.
Human Molecular Genetics, 2003
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