Fibrinogen Marburg: a homozygous case of dysfibrinogenemia, lacking amino acids A alpha 461-610 (Lys 461 AAA-->stop TAA).

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Article

Fibrinogen Marburg: a homozygous case of dysfibrinogenemia, lacking amino acids A alpha 461-610 (Lys 461 AAA-->stop TAA).

Blood - 15 Oct 1992

Koopman J, Haverkate F, Grimbergen J, Egbring R, Lord S T

Abstract excerpt

In the A alpha-chain gene coding for an abnormal fibrinogen (fibrinogen Marburg) we identified a single base substitution (A-->T) that changes the codon A alpha 461 AAA (Lys) to TAA (Stop). The propositus was found to be homozygous for the mutation, whereas the father and five siblings were heter...

Topics

Adult
Afibrinogenemia
Amino Acid Sequence
Base Sequence
Codon
DNA
Disulfides
Endothelium, Vascular
Female
Fibrin
Fibrinogens, Abnormal
Fibrinopeptide A
Homozygote
Humans
Molecular Sequence Data
Molecular Weight
Mutation
Pedigree

Source

Open in PubMed

Identifiers

PMID: 1391954

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1391954-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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