Title: [Clotting factor X deficiency resulted from an T 58-->G mutation within exon 1 of human factor X gene].
Abstract: To identify the genetic defect of a patient with clotting factor X deficiency (QGZ).PCR and DNA sequencing were used to screen mutation in factor X gene. PCR primers were designed covering all the coding regions for exon and flanking intron sequences.A single nucleotide substitution T 58G in exon 1, which caused a missense mutation Ser(AGT) 11 Arg(AGG) in signal peptide, was identified by DNA sequencing.This nucleotide substitution might be the molecular etiology of factor X deficiency.
Publication Year: 2001
Publication Date: 2001-09-01
Language: en
Type: article
Indexed In: ['pubmed']
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