Compound heterozygosity in a family with protein C deficiency illustrating the complexity of the underlying molecular mechanism.

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Article

Compound heterozygosity in a family with protein C deficiency illustrating the complexity of the underlying molecular mechanism.

Thrombosis and haemostasis - 15 Nov 1993

Gandrille S, Jude B, Alhenc-Gelas M, Millaire A, Aiach M

Abstract excerpt

The association of two missense mutations, a Leu 223 to Phe and an Ile 403 to Met, is described in a family presenting with various protein C deficiency phenotypes. In this family, two subjects were compound heterozygotes with protein C levels of about 25%, the other members being heterozygous for only one of the mutations. The Leu 223 to Phe mutation was also found in 9 members of 3 other families and, in all...

Topics

Adolescent
Adult
Base Sequence
Child
DNA Mutational Analysis
Electrophoresis, Polyacrylamide Gel
Female
Genes
Heterozygote
Humans
Male
Middle Aged

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Pedigree

Phenotype

Point Mutation

Polymerase Chain Reaction

Protein C

Source

Open in PubMed

Identifiers

PMID: 8128429

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8128429-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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