Article
An RT-PCR-SSCP screening strategy for detection of mutations in the gene encoding the alpha 1 chain of type I collagen: application to four patients with osteogenesis imperfecta.
Human molecular genetics - 1 Aug 1993
Mackay K, Byers P H, Dalgleish R
Abstract excerpt
A strategy has been developed to allow the screening for mutations in the cDNA of the type I collagen alpha 1 chain. The method involves polymerase chain reaction amplification of four overlapping segments covering the majority of the sequence coding for alpha 1(I) collagen. Four or five restriction endonuclease digestions are performed for each segment and digested samples subjected to single strand conformation...
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