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Article

Original tandem duplication in FXIIIA gene with splicing site modification and four amino acids insertion causes factor XIII deficiency.

Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Apr 2017

Louhichi Nacim, Haj Salem Ikhlass, Medhaffar Moez, Miled Nabil, Hadji Ahmad F, Keskes Leila, Fakhfakh Faiza

Abstract excerpt

: Recessive mutations of F13A gene are reported to be responsible of FXIIIA subunit deficiency (FXIIIA). In all, some intronic nucleotide changes identified in this gene were investigated by in-silico analysis and occasionally supported by experimental data or reported in some cases as a polymorphism. To determine the molecular defects responsible of congenital factor XIII deficiency in Libyan patient, molecular...

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Identifiers

PMID: 27427785
DOI: 10.1097/MBC.0000000000000587

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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