RGD Reference Report - Identification of a point mutation in factor XIII A subunit deficiency. - Rat Genome Database

RGD Reference Report - Identification of a point mutation in factor XIII A subunit deficiency. - Rat Genome Database

Submit Data | Help | Video Tutorials | News | Publications | Download | REST API | Citing RGD | Contact

General

Identification of a point mutation in factor XIII A subunit deficiency.
Authors:	Board, P Coggan, M Miloszewski, K
Citation:	Board P, etal., Blood 1992 Aug 15;80(4):937-41.
RGD ID:	734955
Pubmed:	PMID:1353995 (View Abstract at PubMed)
Oligonucleotide primers have been designed for the amplification of all 15 exons of the human coagulation factor XIII A subunit gene. Each exon and its intron flanking regions has been amplified and sequenced from a patient with severe A subunit deficiency. A single G to A transition in the last base of exon 14 has been identified in the homozygous proband and in his heterozygous parents. The mutation would result in the substitution 681 Arg to His in the mature protein product. However, because the mutation is at a splice junction, the deficiency may result from a defect in pre-messenger RNA splicing.

Objects referenced in this article

Gene	F13A1	coagulation factor XIII A chain	Homo sapiens
Gene	F13a1	coagulation factor XIII A1 chain	Rattus norvegicus

Additional Information