Direct sequencing of PCR products for mutation detection in osteogenesis imperfecta.

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Article

Direct sequencing of PCR products for mutation detection in osteogenesis imperfecta.

Journal of applied genetics - 1 Jan 2002

Galicka Anna, Gindzieński Andrzej

Abstract excerpt

This work present a short and simple method for mutation detection in type I collagen genes, based on the direct sequencing of single-stranded DNA. The sequencing of type I collagen genes is complicated and difficult because of their large size and highly repetitive and GC-rich coding regions. Although many techniques have been developed for mutation screening in osteogenesis imperfecta (OI), they represent...

Topics

Collagen Type I
DNA
DNA Primers
Humans
Mutation
Osteogenesis Imperfecta
Polymerase Chain Reaction
Polymorphism, Genetic

Source

Open in PubMed

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PMID: 12177526

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