Three novel polymorphic variants were found within COL1A1 genomic sequence (accession number AF017178) while screening several patients in the search of OI causal mutations. The three polymorphisms, located in intron 12, exon 26, and intron 29, respectively, can be detected by PCR amplification and digestion with appropriate restriction enzymes (Mboll, BstNI, Pvull, respectively). Allelic frequencies within the Italian population were calculated. (C) 2000 Academic Press.
Three novel polymorphic sequence variants in the type I collagen gene COL1A1, the main disease locus for Osteogenesis Imperfecta
PIGNATTI, Pierfranco;MOTTES, Monica
2000-01-01
Abstract
Three novel polymorphic variants were found within COL1A1 genomic sequence (accession number AF017178) while screening several patients in the search of OI causal mutations. The three polymorphisms, located in intron 12, exon 26, and intron 29, respectively, can be detected by PCR amplification and digestion with appropriate restriction enzymes (Mboll, BstNI, Pvull, respectively). Allelic frequencies within the Italian population were calculated. (C) 2000 Academic Press.
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