Fibrinogen Milano XIII (Aalpha 19 Arg-->Gly): a dysfunctional variant with an amino acid substitution in the N-terminal polymerization site.
Bolliger-Stucki
B
B
Central Hematology Laboratory, Inselspital, University Hospital, Bern, Switzerland.
Bucciarelli
P
P
Lämmle
B
B
Furlan
M
M
D000328:Adult; D019943:Amino Acid Substitution; D001665:Binding Sites; D001780:Blood Coagulation Tests; D005192:Family Health; D005260:Female; D015241:Fibrinogens, Abnormal / Q000737:chemistry / Q000235:genetics; D005344:Fibrinopeptide A / Q000378:metabolism; D005345:Fibrinopeptide B / Q000378:metabolism; D014644:Genetic Variation; D006801:Humans; D007558:Italy / Q000453:epidemiology; D020125:Mutation, Missense; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational; D011247:Pregnancy; D017422:Sequence Analysis, DNA; D013918:Thrombin Time
D015241:Fibrinogens, Abnormal; C404527:fibrinogen Milano XIII; D005344:Fibrinopeptide A; D005345:Fibrinopeptide B