A compound heterozygous protein C deficiency with a single nucleotide G deletion encoding Gly-381 and an amino acid substitution of Lys for Gla-26.

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Article

A compound heterozygous protein C deficiency with a single nucleotide G deletion encoding Gly-381 and an amino acid substitution of Lys for Gla-26.

Thrombosis and haemostasis - 18 Oct 1993

Ido M, Ohiwa M, Hayashi T, Nishioka J, Hatada T, Watanabe Y, Wada H, Shirakawa S, Suzuki K

Abstract excerpt

We report genetic abnormalities of protein C gene in a male infant who developed neonatal purpura fulminans. DNA-sequence analysis of all exons in protein C gene in this family revealed two mutations. The first abnormality, derived from the mother, was a deletion of one of four consecutive G at nucleotide number 10758 in exon IX which would result in a frame shift mutation and completely change amino acid...

Topics

1-Carboxyglutamic Acid
Antigens
Base Sequence
Exons
Fathers
Genetic Code
Glycine
Guanine
Heterozygote
Humans
Infant, Newborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Lysine

Male

Molecular Sequence Data

Mutation

Pedigree

Protein C

Protein C Deficiency

Source

Open in PubMed

Identifiers

PMID: 8115990

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8115990-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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