Work

Validation of a quantitative PCR-high-resolution melting protocol for simultaneous screening ofCOL1A1andCOL1A2point mutations and large rearrangements: Application for diagnosis of osteogenesis imperfecta

Year: 2012

Type: article

Source: Human Mutation

DOI: 10.1002/humu.22146

Authors: Filomena Valentina Gentile, Monia Zuntini, Alessandro Parra, Luca Battistelli, Martina Pandolfi, Gerard Pals, Luca Sangiorgi

Institutions: Istituto Ortopedico Rizzoli, Amsterdam UMC Location Vrije Universiteit Amsterdam

Language: English

Topic: Connective tissue disorders research

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W2139076364

FWCI: 0.355

Cites: 41

Cited by: 16

Related to: 10