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Article

Two genetic defects in a patient with complete deficiency of the b-subunit for coagulation factor XIII.

Blood - 1 Jul 1993

Hashiguchi T, Saito M, Morishita E, Matsuda T, Ichinose A

Abstract excerpt

A genomic DNA obtained from a female patient with complete b-subunit deficiency was examined by Southern blotting analysis and in vitro amplification. Nucleotide sequence analysis showed that adenosine-4161 at the acceptor splice junction of intron A/exon II was deleted in half of the amplified DNAs, resulting in a loss of the obligatory AG splicing sequence. The absence of adenosine-4161 was confirmed by...

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PMID: 8324218

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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