Development and validation of a comprehensive mutation and deletion detection assay for SDHB, SDHC, and SDHD

Clinical Biochemistry

Volumn 43, Issue 7-8, 2010, Pages 700-704

  Milosevic, Dragana ^a   Lundquist, Patrick ^a   Cradic, Kendall ^a   Vidal Folch, Noemi ^a   Huynh, ThanhTruc ^b   Pacak, Karel ^b   Grebe, Stefan K G ^a  

^a MAYO CLINIC   (United States)

^b EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

Author keywords

Deletion detection; DNA sequencing; Genotyping; MLPA; Paraganglioma; Pheochromocytoma; SDHB; SDHC; SDHD

Indexed keywords

SUCCINATE DEHYDROGENASE; SUCCINATE DEHYDROGENASE B; SUCCINATE DEHYDROGENASE C; SUCCINATE DEHYDROGENASE D; UNCLASSIFIED DRUG;

ANALYTIC METHOD; ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; GENE DELETION; GENE MUTATION; HUMAN; MISSENSE MUTATION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NONSENSE MUTATION; PHEOCHROMOCYTOMA; PRIORITY JOURNAL; RELIABILITY; SEQUENCE ANALYSIS; VALIDATION PROCESS;

ADRENAL GLAND NEOPLASMS; DNA MUTATIONAL ANALYSIS; MEMBRANE PROTEINS; NUCLEIC ACID AMPLIFICATION TECHNIQUES; PARAGANGLIOMA; PHEOCHROMOCYTOMA; POLYMERASE CHAIN REACTION; SEQUENCE DELETION; SUCCINATE DEHYDROGENASE;

EID: 77951203643     PISSN: 00099120     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.clinbiochem.2010.01.016     Document Type: Article

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