Article
Factor X Nagoya 1 and Nagoya 2: a CRM- factor X deficiency and a dysfunctional CRM+ factor X deficiency characterized by substitution of Arg306 by Cys and of Gly366 by Ser, respectively.
Thrombosis and haemostasis - 1 Mar 1998
Miyata T, Kojima T, Suzuki K, Umeyama H, Yamazaki T, Kamiya T, Toyoda H, Kato H
Abstract excerpt
We have identified, in two unrelated patients, factor X deficiency that we have designated factor X Nagoya 1 and Nagoya 2, respectively. The proband with factor X Nagoya 1 showed factor X activity level of 3% and factor X antigen level < 10% of the normal control value. All the exons and intron/exon junctions of the factor X gene were studied using a strategy combining polymerase chain reaction (PCR)...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.