Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway. [electronic resource]
Producer: 20110504Description: 138-44 p. digitalISSN:- 1476-5438
- Abnormalities, Multiple -- genetics
- Adolescent
- Barth Syndrome -- genetics
- Child, Preschool
- Craniofacial Abnormalities -- genetics
- DNA, Mitochondrial -- genetics
- Female
- Heart Defects, Congenital -- genetics
- Humans
- Infant
- LEOPARD Syndrome -- genetics
- MAP Kinase Signaling System -- genetics
- Middle Aged
- Mitochondrial Encephalomyopathies -- genetics
- Multiple Acyl Coenzyme A Dehydrogenase Deficiency -- genetics
- Mutation
- Protein Tyrosine Phosphatase, Non-Receptor Type 11 -- genetics
- Proto-Oncogene Proteins p21(ras) -- genetics
- Skin Abnormalities -- genetics
- ras Proteins -- genetics
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Publication Type: Journal Article
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