Three Factor 11 Mutations Associated with Factor XI Deficiency in a Turkish Family

Factor XI (FXI) is a homodimeric serine protease, which is produced in the liver and circulates in the plasma complexed with high-molecular-weight kininogen. FXI plays an important role in the amplification of the initial coagulation response via a positive feedback mechanism for the generation of a...

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Veröffentlicht in:	Turkish journal of haematology 2018-03, Vol.35 (1), p.79-80
Hauptverfasser:	Hançer, Veysel Sabri, Gökgöz, Zafer, Büyükdoğan, Murat
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Amino Acid Substitution Child Enzymes factor xi Factor XI - genetics Factor XI Deficiency - diagnosis Factor XI Deficiency - genetics Families & family life family Genetic Association Studies Genotype Humans Letters to the Editor Male Mutation Pedigree Phenotype Tıp Turkey
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Beschreibung
Zusammenfassung:	Factor XI (FXI) is a homodimeric serine protease, which is produced in the liver and circulates in the plasma complexed with high-molecular-weight kininogen. FXI plays an important role in the amplification of the initial coagulation response via a positive feedback mechanism for the generation of additional thrombin [1,2,3,4]. Congenital FXI deficiency is characterized by decreased levels or activity of FXI in the plasma and may cause an inherited bleeding disorder. The FXI gene is located on 4q34- 35 and consists of 15 exons.
ISSN:	1300-7777 1308-5263
DOI:	10.4274/tjh.2017.0140