Genotype establishments for protein C deficiency by use of a DNA polymorphism in the gene.

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Article

Genotype establishments for protein C deficiency by use of a DNA polymorphism in the gene.

Blood - 15 Jun 1991

Yamamoto K, Tanimoto M, Matsushita T, Kagami K, Sugiura I, Hamaguchi M, Takamatsu J, Saito H

Abstract excerpt

During the course of structural gene analyses for protein C deficiency, we have confirmed that a T or G nucleotide variation is present at exon 6 of the protein C gene. This single-base substitution was located at the third nucleotide coding for Ser (TCT) at 99 residue, and neither produces an amino acid substitution nor creates a new restriction enzyme site. By using mutagenic primers that could introduce A...

Topics

Base Sequence
Child, Preschool
Deoxyribonucleases, Type II Site-Specific
Exons
Female
Gene Frequency
Genotype
Glycoproteins
Haplotypes
Humans
Japan
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Middle Aged

Molecular Sequence Data

Pedigree

Polymerase Chain Reaction

Polymorphism, Restriction Fragment Length

Protein C

Source

Open in PubMed

Identifiers

PMID: 1675129

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1675129-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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