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pubmed-article:8244342pubmed:abstractTextAn acceptor splice-site mutation (3318, A-->G) in the invariant AG of intron 5 of the human protein C gene has been identified in a Spanish family with heterozygous type I protein C (PC) deficiency and thromboembolic disease. Family studies confirmed cosegregation of the mutation with type I PC deficiency. Computer analysis of the mutated sequence predicted the normal splicing site to be abolished by this mutation, whereas a cryptic splice site located two nucleotides downstream, in exon 6, is probably activated. According to this, 3318, A-->G should result in a frameshift with a stop at codon 119, in agreement with the presence of a type I or quantitative PC deficient phenotype in the affected members of the family.lld:pubmed
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pubmed-article:8244342pubmed:articleTitleAcceptor splice site mutation in the invariant AG of intron 5 of the protein C gene, causing type I protein C deficiency.lld:pubmed
pubmed-article:8244342pubmed:affiliationMolecular Genetics Department, IRO Cancer Research Institute, Hospital Duran i Reynals, Barcelona, Spain.lld:pubmed
pubmed-article:8244342pubmed:publicationTypeJournal Articlelld:pubmed
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