Molecular analysis of pheochromocytoma after maternal transmission of SDHD mutation elucidates mechanism of parent-of-origin effect

Journal of Clinical Endocrinology and Metabolism

Volumn 96, Issue 12, 2011, Pages

  Yeap, Phey M ^a   Tobias, Edward S ^b   Mavraki, Eleni ^c   Fletcher, Alexander ^b   Bradshaw, Nicola ^d   Freel, E Marie ^a,b   Cooke, Alexander ^b   Murday, Victoria A ^d   Davidson, H Rosemarie ^d   Perry, Colin G ^a   Lindsay, Robert S ^a,b  

^a WESTERN INFIRMARY   (United Kingdom)

^b UNIVERSITY OF GLASGOW   (United Kingdom)

^c NINEWELLS HOSPITAL   (United Kingdom)

^d ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

SUCCINATE DEHYDROGENASE; SUCCINATE DEHYDROGENASE D; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; CASE REPORT; CHROMOSOME 11; CONTROLLED STUDY; DISEASE PREDISPOSITION; DNA METHYLATION; DNA SEQUENCE; FAMILY STUDY; FEMALE; GENE; GENE FREQUENCY; GENE MUTATION; GENETIC SUSCEPTIBILITY; HETEROZYGOSITY LOSS; HUMAN; INHERITANCE; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHEOCHROMOCYTOMA; PRIORITY JOURNAL; SDHD GENE;

ADRENAL GLAND NEOPLASMS; ALLELES; CHROMOSOMES, HUMAN, PAIR 11; DNA MUTATIONAL ANALYSIS; FEMALE; GERM-LINE MUTATION; HUMANS; LOSS OF HETEROZYGOSITY; MALE; PEDIGREE; PHEOCHROMOCYTOMA; SUCCINATE DEHYDROGENASE;

EID: 83155168436     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2011-1244     Document Type: Article

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