Fibrinogen Krakow: a novel hypo/dysfibrinogenemia mutation in fibrinogen gamma chain (Asn325Ile) affecting fibrin clot structure and function.
Undas
Anetta
A
Institute of Cardiology, Jagiellonian University School of Medicine, 80 Pradnicka St., 31-202 Cracow, Poland. mmundas@cyf-kr.edu.pl
Zdziarska
Joanna
J
Iwaniec
Teresa
T
Stepien
Ewa
E
Skotnicki
Aleksander B
AB
de Moerloose
Philippe
P
Neerman-Arbez
Marguerite
M
D025861:Blood Coagulation Disorders, Inherited / Q000097:blood / Q000235:genetics*; D001780:Blood Coagulation Tests; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D015241:Fibrinogens, Abnormal / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D005342:Fibrinolysis / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D016062:Porosity; D011247:Pregnancy; D011250:Pregnancy Complications, Hematologic / Q000097:blood / Q000235:genetics*; D011487:Protein Conformation; D055815:Young Adult
D015241:Fibrinogens, Abnormal