Novel homozygous fibrinogen Aα chain truncation causes severe afibrinogenemia with life threatening complications in a two-year-old boy.
Institute of Hematology and Blood Transfusion, Prague 2, Czech Republic.
Jana
J
Stikarová
Jan
J
Blatný
Roman
R
Kotlín
Jiří
J
Suttnar
Ondřej
O
Zapletal
Kristýna
K
Pimková
Pavel
P
Májek
Ingrid
I
Hrachovinová
Jan E
JE
Dyr
D000347:Afibrinogenemia / Q000097:blood* / Q000235:genetics; D002675:Child, Preschool; D005340:Fibrinogen / Q000235:genetics / Q000378:metabolism*; D015241:Fibrinogens, Abnormal / Q000235:genetics / Q000378:metabolism*; D006720:Homozygote; D006801:Humans; D008297:Male
D015241:Fibrinogens, Abnormal; C464794:fibrinogen Aalpha; D005340:Fibrinogen