Truncated mutant B subunit for factor XIII causes its deficiency due to impaired intracellular transportation

Two Japanese patients were newly diagnosed as having B subunit (XIIIB) deficiency of factor XIII (former type I deficiency). Both patients have a previously described one-base deletion at the boundary between intron A/exon II in the XIIIB gene, heterozygously or homozygously. A founder effect was pr...

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Veröffentlicht in:	Blood 2001-05, Vol.97 (9), p.2667-2672
Hauptverfasser:	Koseki, Shiori, Souri, Masayoshi, Koga, Shinichiro, Yamakawa, Mitsunori, Shichishima, Tsutomu, Maruyama, Yukio, Yanai, Fumio, Ichinose, Akitada
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Sequence Base Sequence Biological and medical sciences Biological Transport Factor XIII - genetics Factor XIII - metabolism Factor XIII Deficiency - blood Factor XIII Deficiency - etiology Factor XIII Deficiency - genetics Hematologic and hematopoietic diseases Humans Medical sciences Molecular Sequence Data Mutation Platelet diseases and coagulopathies
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