Novel succinate dehydrogenase subunit B (SDHB) mutations in familial phaeochromocytomas and paragangliomas, but an absence of somatic SDHB mutations in sporadic phaeochromocytomas

Oncogene

Volumn 22, Issue 9, 2003, Pages 1358-1364

  Benn, Diana E ^a,b   Croxson, Michael S ^c   Tucker, Kathy ^d   Bambach, Christopher P ^a   Richardson, Anne Louise ^a   Delbridge, Leigh ^a,b   Pullan, Peter T ^e,f   Hammond, Jeremy ^g   Marsh, Deborah J ^a,b   Robinson, Bruce G ^a,b  

^a ROYAL NORTH SHORE HOSPITAL   (Australia)

^b UNIVERSITY OF SYDNEY   (Australia)

^c AUCKLAND CITY HOSPITAL   (New Zealand)

^d UNIVERSITY OF NEW SOUTH WALES   (Australia)

^e SIR CHARLES GAIRDNER HOSPITAL   (Australia)

^f UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^g The Melbourne Clinic   (Australia)

Author keywords

Leaky splicing; Paraganglioma; Phaeochromocytoma; SDHB; SDHD

Indexed keywords

PROTEIN RET; SUCCINATE DEHYDROGENASE; SUCCINATE DEHYDROGENASE B; SUCCINATE DEHYDROGENASE D; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ALLELE; ARTICLE; CHROMOSOME 1P; CLINICAL ARTICLE; DNA POLYMORPHISM; ENZYME SUBUNIT; FAMILY HISTORY; FRAMESHIFT MUTATION; GENE MUTATION; HEAD AND NECK TUMOR; HETEROZYGOSITY LOSS; HUMAN; INTRON; MALE; MISSENSE MUTATION; MULTIPLE ENDOCRINE NEOPLASIA; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; ONSET AGE; PARAGANGLIOMA; PATHOGENESIS; PHEOCHROMOCYTOMA; PRIORITY JOURNAL; PROTEIN FUNCTION; SCHOOL CHILD; SOMATIC MUTATION; SPLICEOSOME;

ADOLESCENT; ADRENAL GLAND NEOPLASMS; ADULT; AGE OF ONSET; AUSTRALIA; CHILD; CHROMOSOMES, HUMAN, PAIR 1; DNA MUTATIONAL ANALYSIS; DNA, NEOPLASM; ELECTRON TRANSPORT COMPLEX II; FRAMESHIFT MUTATION; GERM-LINE MUTATION; HEAD AND NECK NEOPLASMS; HUMANS; INTRONS; IRON-SULFUR PROTEINS; LOSS OF HETEROZYGOSITY; MALE; MIDDLE AGED; MULTIENZYME COMPLEXES; MULTIPLE ENDOCRINE NEOPLASIA; MUTATION, MISSENSE; NEOPLASM PROTEINS; NEOPLASTIC SYNDROMES, HEREDITARY; OXIDOREDUCTASES; PARAGANGLIOMA; PEDIGREE; PHEOCHROMOCYTOMA; PROTEIN SUBUNITS; RETROPERITONEAL NEOPLASMS; RNA SPLICE SITES; SUCCINATE DEHYDROGENASE;

EID: 0037422207     PISSN: 09509232     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.onc.1206300     Document Type: Article

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