Ontology highlight
ABSTRACT:
SUBMITTER: Brennan SO
PROVIDER: S-EPMC2663623 | biostudies-literature | 2009 Apr
REPOSITORIES: biostudies-literature
Brennan Stephen O SO Davis Ryan L RL Lowen Robin R Ruskova Anna A
Haematologica 20090219 4
Routine pre-surgical coagulation investigations led to the detection of a novel type of hypodysfibrinogenemia whose functional defect appears to result from an alteration in the spacing between the functional domains of the fibrinogen molecule. The detection, by reverse phase HPLC, of a minor isoform of Bbeta chain with a 554 Da decrease in mass led to the identification of a deletion of five amino acids (NVVNE) from the center of the coiled coil. The variant chain contributed only 10% of the to ...[more]