A new approach to imprinting mutation detection in GNAS by Sequenom EpiTYPER system

Clinica Chimica Acta

Volumn 411, Issue 23-24, 2010, Pages 2033-2039

  Izzi, Benedetta ^a   Decallonne, Brigitte ^b   Devriendt, Koen ^b   Bouillon, Roger ^b   Vanderschueren, Dirk ^b   Levtchenko, Elena ^b   de Zegher, Francis ^b   Van den Bruel, Annick ^c   Lambrechts, Diether ^d   Van Geet, Chris ^a,b   Freson, Kathleen ^a  

^a UNIVERSITY OF LEUVEN   (Belgium)

^b UNIVERSITY OF LEUVEN   (Belgium)

^c General Hospital St Jan   (Belgium)

^d Vesalius Research Center   (Belgium)

Author keywords

DNA methylation; Epigenetics; GNAS; Imprinting; Pseudohypoparathyroidism; Sequenom EpiTYPER

Indexed keywords

CELL DNA; GUANINE NUCLEOTIDE BINDING PROTEIN ALPHA SUBUNIT; PARATHYROID HORMONE;

ARTICLE; CONTROLLED STUDY; CPG ISLAND; DNA DETERMINATION; DNA METHYLATION; EPIGENETICS; EXON; FEMALE; GENE CLUSTER; GENE MUTATION; HORMONE BLOOD LEVEL; HORMONE RESISTANCE; HUMAN; HYPERPHOSPHATEMIA; HYPOCALCEMIA; MALE; MASS SPECTROMETRY; MOLECULAR IMPRINTING; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; PSEUDOHYPOPARATHYROIDISM; QUANTITATIVE ANALYSIS; SENSITIVITY AND SPECIFICITY; SEQUENCE ANALYSIS;

CASE-CONTROL STUDIES; CPG ISLANDS; DNA METHYLATION; DNA MUTATIONAL ANALYSIS; FEMALE; GENOMIC IMPRINTING; GTP-BINDING PROTEIN ALPHA SUBUNITS, GS; HUMANS; HYPERPHOSPHATEMIA; HYPOCALCEMIA; LEUKOCYTES; MALE; MASS SPECTROMETRY; MULTIGENE FAMILY; PSEUDOHYPOPARATHYROIDISM;

EID: 77957753745     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cca.2010.08.034     Document Type: Article

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