Familial hypofibrinogenaemia associated with heterozygous substitution of a conserved arginine residue; Bbeta255 Arg-->His (Fibrinogen Merivale).
about
Mutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia: an update and report of 10 novel mutationsThe molecular basis of quantitative fibrinogen disorders.Molecular basis of quantitative fibrinogen disorders in 27 patients from India.Liver histology of an afibrinogenemic patient with the Bbeta-L353R mutation showing no evidence of hepatic endoplasmic reticulum storage disease (ERSD); comparative study in COS-1 cells of the intracellular processing of the Bbeta-L353R fibrinogen v
P2860
Familial hypofibrinogenaemia associated with heterozygous substitution of a conserved arginine residue; Bbeta255 Arg-->His (Fibrinogen Merivale).
description
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name
Familial hypofibrinogenaemia a ...... g-->His (Fibrinogen Merivale).
@en
Familial hypofibrinogenaemia a ...... ne residue; Bbeta255 Arg-->His
@nl
type
label
Familial hypofibrinogenaemia a ...... g-->His (Fibrinogen Merivale).
@en
Familial hypofibrinogenaemia a ...... ne residue; Bbeta255 Arg-->His
@nl
prefLabel
Familial hypofibrinogenaemia a ...... g-->His (Fibrinogen Merivale).
@en
Familial hypofibrinogenaemia a ...... ne residue; Bbeta255 Arg-->His
@nl
P2093
P1476
Familial hypofibrinogenaemia a ...... g-->His (Fibrinogen Merivale).
@en
P2093
Andrew P Fellowes
Ghassan J Maghzal
Peter M George
Ruth Spearing
Stephen O Brennan
P304
P356
10.1016/S1570-9639(02)00529-0
P577
2003-02-01T00:00:00Z