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Amino acid or protein metabolism disease with epilepsy
- ... MedlinePlus Genetics provides information about Mitochondrial neurogastrointestinal ... in MEMSA change single amino acids in the alpha subunit of pol γ. These ...
- ... age 2. Most of these mutations change single protein building blocks (amino acids) in folate receptor alpha. FOLR1 gene mutations result in a lack of protein or malfunctioning protein. Without folate receptor alpha in ...