Kleefstra, Tjitske
Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway. [electronic resource]
- European journal of human genetics : EJHG Feb 2011
- 138-44 p. digital
Publication Type: Journal Article
ISSN: 1476-5438
Standard No.: 10.1038/ejhg.2010.171 doi
Subjects--Topical Terms: 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