First de novo mutations in the protein C gene of two patients with type I deficiency: a missense mutation and a splice site deletion.

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Article

First de novo mutations in the protein C gene of two patients with type I deficiency: a missense mutation and a splice site deletion.

Blood - 15 Oct 1994

Gandrille S, Jude B, Alhenc-Gelas M, Emmerich J, Aiach M

Abstract excerpt

In a series of 40 patients with symptomatic protein C deficiency, we identified two sporadic cases with novel mutations that probably affect gene expression. The mutations, a 5-bp deletion of the donor splice site of intron f (nucleotides 3455 to 3459) and a mutation of nucleotide 8523 in exon IX leading to the substitution of Ser 270 by Pro, were not found in the protein C gene of the patients' parents....

Topics

Adult
Alleles
Amino Acid Sequence
Base Sequence
Exons
Female
Gene Deletion
Globins
Humans
Introns
Male
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Pedigree

Polymorphism, Genetic

Protein C

Protein C Deficiency

RNA Splicing

Source

Open in PubMed

Identifiers

PMID: 7919373

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7919373-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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