SDHA mutations causing a multisystem mitochondrial disease: Novel mutations and genetic overlap with hereditary tumors

European Journal of Human Genetics

Volumn 23, Issue 2, 2015, Pages 202-209

  Renkema, G Herma ^a   Wortmann, Saskia B ^a   Smeets, Roel J ^a   Venselaar, Hanka ^a   Antoine, Marion ^a   Visser, Gepke ^b   Ben Omran, Tawfeg ^c   Van Den Heuvel, Lambert P ^a   Timmers, Henri Jlm ^a   Smeitink, Jan A ^a   Rodenburg, Richard J T ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^c WEILL CORNELL MEDICAL COLLEGE   (Qatar)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CANCER SCREENING; CASE REPORT; COMPLEX II DEFICIENCY; CONTROLLED STUDY; DISEASE CARRIER; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENZYME ACTIVITY; FAMILIAL CANCER; FIBROBLAST; GENE; GENE LOCUS; GENETIC ANALYSIS; GERMLINE MUTATION; HUMAN; HUMAN CELL; LEIGH DISEASE; LEUKODYSTROPHY; OVERLAPPING GENE; PARAGANGLIOMA; PATHOGENICITY; PHEOCHROMOCYTOMA; PRIORITY JOURNAL; PROTEIN EXPRESSION; RNA SPLICING; SDHA GENE; AMINO ACID SEQUENCE; CELL CULTURE; CHEMISTRY; CHILD; GENETICS; INFANT; LEUKOENCEPHALOPATHIES; METABOLISM; MISSENSE MUTATION; MOLECULAR GENETICS; NEOPLASM; PRESCHOOL CHILD;

SDHA PROTEIN, HUMAN; SUCCINATE DEHYDROGENASE (UBIQUINONE);

AMINO ACID SEQUENCE; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; ELECTRON TRANSPORT COMPLEX II; FIBROBLASTS; HUMANS; INFANT; LEIGH DISEASE; LEUKOENCEPHALOPATHIES; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NEOPLASMS; RNA SPLICING;

EID: 84921345053     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.80     Document Type: Article

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