Ann Lab Med.  2014 Jul;34(4):332-335. 10.3343/alm.2014.34.4.332.

Cys482Trp Missense Mutation in the Coagulation Factor XI Gene (F11) in a Korean Patient with Factor XI Deficiency

• Choi SJ
• Kim J
• Lee KA
• Choi JR
• Yoo J

• KMID: 1791945
• DOI: http://doi.org/10.3343/alm.2014.34.4.332

Abstract

No abstract available.

MeSH Terms

Adolescent
Asian Continental Ancestry Group/*genetics
Child
Exons
Factor XI/*genetics
Factor XI Deficiency/*diagnosis/genetics
Female
Genetic Testing
Genotype
Heterozygote
Humans
Male
Mutation, Missense
Partial Thromboplastin Time
Pedigree
Republic of Korea
Sequence Analysis, DNA
Factor XI

Figure

• 

  Fig. 1 Pedigree of the family with factor XI deficiency. Genetic analysis was available for one family member (*).Abbreviations: aPTT, activated partial thromboplastin time; FXI, factor XI activity level.

• 

  Fig. 2 Identification of the F11 gene mutation. Direct sequencing of the proband demonstrated a heterozygous mutation, c.1500C >G, (p.Cys500Trp [Cys482Trp]) of exon 13 in the F11 gene. The location of the variation is indicated by an arrow. *Conventional numbering according to Asakai et al. [6] at the protein level, omitting the signal peptide and counting the start codon ATG as -18.Abbreviation: Ref sequence, reference DNA sequence.

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