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Coagulation factor XIII, A1 polypeptide

The coagulation factor XIII is heterotetramer composed of 2 A subunits and 2 B subunits. The F13A1 gene encodes the A subunit. The function of factor XIII is to stabilize the fibrin clot. Mutations cause autosomal recessive factor XIII deficiency, a bleeding disorder that shows defective wound healing.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Target mutation analysis
Turnaround 20 days
Specimen type genomic DNA

Related Diseases:

Factor XIII A subunit deficiency
F13A1

References:

1.

Kera Y et al. (1981) Genetic polymorphism of the B subunit of human coagulation factor XIII: another classification.

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2.

Izumi T et al. (1996) Type I factor XIII deficiency is caused by a genetic defect of its b subunit: insertion of triplet AAC in exon III leads to premature termination in the second Sushi domain.

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3.

Nonaka M et al. (1993) Molecular cloning of the b subunit of mouse coagulation factor XIII and assignment of the gene to chromosome 1: close evolutionary relationship to complement factor H.

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4.

None (1980) Genetic polymorphism of the B subunit of human coagulation factor XIII.

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5.

Nakamura S et al. (1982) Genetic polymorphism of coagulation factor XIIIB subunit in Japanese.

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6.

None (1984) Genetic heterogeneity of the B subunit of coagulation factor XIII: resolution of type 2.

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7.

Eiberg H et al. (1985) Cystic fibrosis; hint of linkage with F13B.

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8.

Bender K et al. (1987) Coagulation factor XIII: genetic linkage studies with F13B.

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9.

Kamboh MI et al. (1986) Genetic studies of low abundance human plasma proteins. II. Population genetics of coagulation factor XIIIB.

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10.

Rodriguez de Cordoba S et al. (1988) Coagulation factor XIII B subunit is encoded by a gene linked to the regulator of complement activation (RCA) gene cluster in man.

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11.

Ichinose A et al. (1986) Amino acid sequence of the b subunit of human factor XIII, a protein composed of ten repetitive segments.

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12.

Takahashi N et al. (1986) Primary structure of blood coagulation factor XIIIa (fibrinoligase, transglutaminase) from human placenta.

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13.

Webb GC et al. (1989) Localization of the coagulation factor XIII B subunit gene (F13B) to chromosome bands 1q31-32.1 and restriction fragment length polymorphism at the locus.

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14.

Grundmann U et al. (1990) Complete cDNA sequence encoding the B subunit of human factor XIII.

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15.

Komanasin N et al. (2005) A novel polymorphism in the factor XIII B-subunit (His95Arg): relationship to subunit dissociation and venous thrombosis.

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16.

Reiner AP et al. (2003) Genetic variants of coagulation factor XIII, postmenopausal estrogen therapy, and risk of nonfatal myocardial infarction.

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17.

Hashiguchi T et al. (1993) Two genetic defects in a patient with complete deficiency of the b-subunit for coagulation factor XIII.

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18.

Saito M et al. (1990) A familial factor XIII subunit B deficiency.

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19.

Koseki S et al. (2001) Truncated mutant B subunit for factor XIII causes its deficiency due to impaired intracellular transportation.

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20.

Hing S et al. (1988) Assignment of complement components C4 binding protein (C4BP) and factor H (FH) to human chromosome 1q, using cDNA probes.

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21.

Orphanet article

Orphanet ID 121665 external link
22.

NCBI article

NCBI 2162 external link
23.

OMIM.ORG article

Omim 134570 external link
24.

Wikipedia article

Wikipedia EN (Coagulation_factor_XIII,_A1_polypeptide) external link
Update: Aug. 14, 2020
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