The homozygous R504C mutation in MTO1 gene is responsible for ONCE syndrome. [electronic resource]
Producer: 20170613Description: 46-53 p. digitalISSN:- 1399-0004
- Abnormalities, Multiple -- genetics
- Acidosis, Lactic
- Adolescent
- Amino Acid Sequence
- Brain Diseases
- Cardiomyopathies
- Carrier Proteins -- genetics
- Exome -- genetics
- Family Health
- Female
- Genetic Predisposition to Disease -- genetics
- Homozygote
- Humans
- Male
- Mitochondrial Diseases
- Mutation, Missense
- Optic Nerve Diseases
- Pedigree
- Polymorphism, Single Nucleotide
- RNA-Binding Proteins
- Sequence Analysis, DNA
- Sequence Homology, Amino Acid
- Syndrome
- Young Adult
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Publication Type: Case Reports; Journal Article
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