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Article

Two novel mutations in EGF-like domains of human factor IX dramatically impair intracellular processing and secretion.

Journal of thrombosis and haemostasis : JTH - 1 Jul 2004

Enjolras N, Plantier J-L, Rodriguez M-H, Rea M, Attali O, Vinciguerra C, Negrier C

Abstract excerpt

We investigated the mechanisms responsible for severe factor IX (FIX) deficiency in two cross-reacting material (CRM)-negative hemophilia B patients with a mutation in the first and second epidermal growth factor (EGF) domains of FIX (C71Y and C109Y, respectively). We have determined the kinetics of mutant FIX biosynthesis and secretion in comparison with wild-type FIX (FIXwt). In transfected cells, FIXwt was...

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Source

Identifiers

PMID: 15219198
DOI: 10.1111/j.1538-7836.2004.00756.x

Genes

EGF

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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