Validation of a quantitative PCR-high-resolution melting protocol for simultaneous screening of COL1A1 and COL1A2 point mutations and large rearrangements: Application for diagnosis of osteogenesis imperfecta

Human Mutation

Volumn 33, Issue 12, 2012, Pages 1697-1707

  Valentina Gentile, Filomena ^a   Zuntini, Monia ^a   Parra, Alessandro ^a   Battistelli, Luca ^a   Pandolfi, Martina ^a   Pals, Gerard ^b   Sangiorgi, Luca ^a  

^a RIZZOLI ORTHOPAEDIC INSTITUTE   (Italy)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

COL1A1 and COL1A2; High resolution melting curve analysis; Osteogenesis imperfecta; Quantitative PCR

Indexed keywords

COLLAGEN TYPE 1;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; GENE REARRANGEMENT; HIGH RESOLUTION MELTING ANALYSIS; HUMAN; MOLECULAR DIAGNOSIS; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NUCLEOTIDE SEQUENCE; OSTEOGENESIS IMPERFECTA; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; VALIDATION STUDY;

CHROMATOGRAPHY, HIGH PRESSURE LIQUID; COLLAGEN TYPE I; DNA; DNA MUTATIONAL ANALYSIS; GENE DOSAGE; GENOTYPING TECHNIQUES; HUMANS; MOLECULAR DIAGNOSTIC TECHNIQUES; OSTEOGENESIS IMPERFECTA; POINT MUTATION; REAL-TIME POLYMERASE CHAIN REACTION; REFERENCE STANDARDS; REPRODUCIBILITY OF RESULTS; TRANSITION TEMPERATURE; TRANSLOCATION, GENETIC;

EID: 84869089637     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22146     Document Type: Article

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