Condition: Congenital hypofibrinogenemia
rs121909621 in
FGB gene and
Congenital hypofibrinogenemia
PMID 10666208 2000 Missense mutations in the human beta fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion.
PMID 25427968 2015 Clinical and molecular characterisation of 21 patients affected by quantitative fibrinogen deficiency.
PMID 11468164 2001 The impaired polymerization of fibrinogen Longmont (Bbeta166Arg-->Cys) is not improved by removal of disulfide-linked dimers from a mixture of dimers and cysteine-linked monomers.
PMID 15070683 2004 Missense or splicing mutation? The case of a fibrinogen Bbeta-chain mutation causing severe hypofibrinogenemia.
rs75848804 in
FGG gene and
Congenital hypofibrinogenemia
PMID 25427968 2015 Clinical and molecular characterisation of 21 patients affected by quantitative fibrinogen deficiency.