Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas

Human Molecular Genetics

Volumn 23, Issue 9, 2014, Pages 2440-2446

  Castro Vega, Luis Jaime ^a,b   Buffet, Alexandre ^a,b,c   De Cubas, Aguirre A ^d   Cascón, Alberto ^d,e   Menara, Mélanie ^a,b   Khalifa, Emmanuel ^a,b,c   Amar, Laurence ^a,b,c   Azriel, Sharona ^f   Bourdeau, Isabelle ^g   Chabre, Olivier ^h   Currás Freixes, Maria ^d   Franco Vidal, Valérie ⁱ   Guillaud Bataille, Marine ^j   Simian, Christophe ^c   Morin, Aurélie ^a,b   Letón, Rocío ^d,e   Gómez Granã, Álvaro ^d   Pollard, Patrick J ^k   Rustin, Pierre ^l   Robledo, Mercedes ^d,e   Favier, Judith ^a,b   Gimenez Roqueplo, Anne Paule ^a,b,c   more..

^a PARIS CARDIOVASCULAR RESEARCH CENTER   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c HÔPITAL EUROPÉEN GEORGES POMPIDOU   (France)

^d Structural Biology and Biocomputing Programme   (Spain)

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

^f HOSPITAL UNIVERSITARIO INFANTA SOFÍA   (Spain)

^g CENTRE HOSPITALIER DE L UNIVERSITÉ DE MONTRÉAL   (Canada)

^h HÔPITAL MICHALLON   (France)

ⁱ HÔPITAL PELLEGRIN   (France)

^j INSTITUT GUSTAVE ROUSSY   (France)

^k UNIVERSITY OF EDINBURGH   (United Kingdom)

^l HÔPITAL ROBERT DEBRÉ   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

5 HYDROXYMETHYLCYTOSINE; CYSTEINE DERIVATIVE; FUMARATE HYDRATASE; S (2 SUCCINYL)CYSTEINE; SUCCINATE DEHYDROGENASE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ALLELE; ARTICLE; CANCER PATIENT; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DNA METHYLATION; ENZYME ACTIVITY; EPIGENETICS; EXOME; FEMALE; FH GENE; GENE DELETION; GENE INACTIVATION; GENE MUTATION; GENE SEQUENCE; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; GERM LINE; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; MALIGNANT NEOPLASTIC DISEASE; MISSENSE MUTATION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PARAGANGLIOMA; PHENOTYPE; PHEOCHROMOCYTOMA; PRIORITY JOURNAL; PROTEIN MODIFICATION; PROTEIN SUCCINATION; SDHB GENE; TUMOR GENE; VERY ELDERLY; EXON; GENETICS; GERMLINE MUTATION; MIDDLE AGED; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CHILD; EXONS; FEMALE; FUMARATE HYDRATASE; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HUMANS; MALE; MIDDLE AGED; PARAGANGLIOMA; PHEOCHROMOCYTOMA; YOUNG ADULT;

EID: 84897524498     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddt639     Document Type: Article

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