Protein C deficiency Hong Kong 1 and 2: hereditary protein C deficiency caused by two mutant alleles, a 5-nucleotide deletion and a missense mutation.

Abstract excerpt

We characterized a mutant protein C gene from an individual with no detectable protein C antigen in blood plasma. Southern blot hybridization analysis with human protein C cDNA demonstrated neither gross deletion nor rearrangement of the gene. Sequencing all the exons and exon-intron boundaries of the gene except the 3' noncoding region showed two mutant alleles. The one, derived from the mother, represents a...

Topics

• Amino Acid Sequence
• Base Sequence
• Gene Expression
• Humans
• Molecular Sequence Data
• Mutation
• Oligodeoxyribonucleotides
• Pedigree
• Polymerase Chain Reaction
• Protein C
• Protein C Deficiency