Molecular defect (Gla+14----Lys) and its functional consequences in a hereditary factor X deficiency (factor X "Vorarlberg").

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Article

Molecular defect (Gla+14----Lys) and its functional consequences in a hereditary factor X deficiency (factor X "Vorarlberg").

The Journal of biological chemistry - 15 Jul 1990

Watzke H H, Lechner K, Roberts H R, Reddy S V, Welsch D J, Friedman P, Mahr G, Jagadeeswaran P, Monroe D M, High K A

Abstract excerpt

Factor X (FX) "Vorarlberg" is a congenital FX deficiency characterized clinically by a mild bleeding tendency. Homozygous individuals have a FX activity of less than 10% in the extrinsic system and 25% in the intrinsic system. FX antigen is 20%. Using molecular techniques, two point mutations were detected in the coding sequence of the FX Vorarlberg gene: a G----A at base pair 160 in exon II resulting in a change...

Topics

Amino Acid Sequence
Base Sequence
Calcium
Exons
Factor X
Factor X Deficiency
Female
Glutamates
Glutamic Acid
Humans
Hypoprothrombinemias

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Kinetics

Lysine

Male

Molecular Sequence Data

Mutation

Oligonucleotide Probes

Pedigree

Source

Open in PubMed

Identifiers

PMID: 1973167

Genes

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1973167-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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