Whole-exome sequencing identifies MDH2 as a new familial paraganglioma gene

Journal of the National Cancer Institute

Volumn 107, Issue 5, 2015, Pages

  Cascón, Alberto ^a,b   Comino Méndez, Iñaki ^a   Currás Freixes, María ^a   De Cubas, Aguirre A ^a   Contreras, Laura ^b,c   Richter, Susan ^d   Peitzsch, Mirko ^d   Mancikova, Veronika ^a   Inglada Pérez, Lucía ^a,b   Pérez Barrios, Andrés ^e   Calatayud, María ^e   Azriel, Sharona ^f   Villar Vicente, Rosa ^g   Aller, Javier ^h   Setién, Fernando ⁱ   Moran, Sebastian ⁱ   Garcia, Juan F ^j   Río Machín, Ana ^a   Letón, Rocío ^a   Gómez Graña, Álvaro ^a   Apellániz Ruiz, María ^a   Roncador, Giovanna ^a   Esteller, Manel ⁱ   Rodríguez Antona, Cristina ^a,b   Satrústegui, Jorgina ^b,c   Eisenhofer, Graeme ^d   Urioste, Miguel ^a,b   Robledo, Mercedes ^a,b   more..

^a Structural Biology and Biocomputing Programme   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

^d UNIVERSITY HOSPITAL CARL GUSTAV CARUS   (Germany)

^e HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^f HOSPITAL UNIVERSITARIO INFANTA SOFÍA   (Spain)

^g HOSPITAL UNIVERSITARIO DE FUENLABRADA   (Spain)

^h HOSPITAL UNIVERSITARIO PUERTA DE HIERRO   (Spain)

ⁱ BELLVITGE BIOMEDICAL RESEARCH INSTITUTE IDIBELL   (Spain)

^j MD ANDERSON CANCER CENTER   (Spain)

more..

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; FUMARIC ACID; MALATE DEHYDROGENASE; MALATE DEHYDROGENASE 2; MALIC ACID; MESSENGER RNA; MITOCHONDRIAL ENZYME; SHORT HAIRPIN RNA; UNCLASSIFIED DRUG; DNA; FUMARIC ACID DERIVATIVE; MALIC ACID DERIVATIVE;

ADULT; ARTICLE; CITRIC ACID CYCLE; CLINICAL ARTICLE; CONTROLLED STUDY; EXOME; FAMILIAL CANCER; FEMALE; GENE EXPRESSION; GENE IDENTIFICATION; GENE SILENCING; GENETIC SUSCEPTIBILITY; GERMLINE MUTATION; HELA CELL LINE; HETEROZYGOSITY LOSS; HUMAN; HUMAN CELL; MALE; MIDDLE AGED; MOLECULAR PATHOLOGY; MULTIPLE CANCER; NONSENSE MEDIATED MRNA DECAY; NUCLEOTIDE SEQUENCE; PARAGANGLIOMA; PERIPHERAL LYMPHOCYTE; PRIORITY JOURNAL; PROTEIN EXPRESSION; TUMOR SUPPRESSOR GENE; WILD TYPE; CASE REPORT; DNA SEQUENCE; DOWN REGULATION; GENE EXPRESSION REGULATION; GENETIC PREDISPOSITION; GENETICS; METABOLISM; PHEOCHROMOCYTOMA;

CITRIC ACID CYCLE; DNA, NEOPLASM; DOWN-REGULATION; EXOME; FUMARATES; GENE EXPRESSION REGULATION, ENZYMOLOGIC; GENE EXPRESSION REGULATION, NEOPLASTIC; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HELA CELLS; HUMANS; MALATE DEHYDROGENASE; MALATES; MALE; MIDDLE AGED; PARAGANGLIOMA; PHEOCHROMOCYTOMA; SEQUENCE ANALYSIS, DNA;

EID: 84928430437     PISSN: 00278874     EISSN: 14602105     Source Type: Journal    
DOI: 10.1093/jnci/djv053     Document Type: Article

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