Fibrinogen brescia: hepatic endoplasmic reticulum storage and hypofibrinogenemia because of a gamma284 Gly-->Arg mutation
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Fibrinogen storage disease without hypofibrinogenemia associated with estrogen therapyThe delicate balance between secreted protein folding and endoplasmic reticulum-associated degradation in human physiologyMutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia: an update and report of 10 novel mutationsHypofibrinogenemia and liver disease: a new case of Aguadilla fibrinogen and review of the literature.A novel fibrinogen variant--Praha I: hypofibrinogenemia associated with gamma Gly351Ser substitution.Hepatic fibrinogen storage disease due to the fibrinogen γ375 Arg → Trp mutation "fibrinogen Aguadilla" is present in ArabsStructure and function of factor XITraffic jam: a compendium of human diseases that affect intracellular transport processes.Mutant fibrinogen cleared from the endoplasmic reticulum via endoplasmic reticulum-associated protein degradation and autophagy: an explanation for liver disease.Evolving questions and paradigm shifts in endoplasmic-reticulum-associated degradation (ERAD).Fibrinogen storage disease in a Chinese boy with de novo fibrinogen Aguadilla mutation: Incomplete response to carbamazepine and ursodeoxycholic acid.The molecular basis of quantitative fibrinogen disorders.Molecular mechanisms accounting for fibrinogen deficiency: from large deletions to intracellular retention of misfolded proteins.Diagnosis, clinical features and molecular assessment of the dysfibrinogenaemias.Controlling subcellular delivery to optimize therapeutic effectBroad spectrum of hepatocyte inclusions in humans, animals, and experimental models.Can the phenotype of inherited fibrinogen disorders be predicted?Genetics, diagnosis and clinical features of congenital hypodysfibrinogenemia: a systematic literature review and report of a novel mutation.Hepatic fibrinogen storage disease: identification of two novel mutations (p.Asp316Asn, fibrinogen Pisa and p.Gly366Ser, fibrinogen Beograd) impacting on the fibrinogen γ-module.Novel fibrinogen mutation γ314Thr→Pro (fibrinogen AI duPont) associated with hepatic fibrinogen storage disease and hypofibrinogenaemia.Fibrinogen Mannheim II: a novel gamma307 His-->Tyr substitution in the gammaD domain causes hypofibrinogenemia.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 vFibrinogen angers with a new deletion (gamma GVYYQ 346-350) causes hypofibrinogenemia with hepatic storage.Fibrinogen Gamma Chain Mutations Provoke Fibrinogen and Apolipoprotein B Plasma Deficiency and Liver Storage.Hypofibrinogenemia caused by a nonsense mutation in the fibrinogen Bbeta chain gene.Clinical Consequences and Molecular Bases of Low Fibrinogen Levels.The fibrous form of intracellular inclusion bodies in recombinant variant fibrinogen-producing cells is specific to the hepatic fibrinogen storage disease-inducible variant fibrinogen.Molecular Mechanisms of Hypo- and AfibrinogenemiaHuman Fibrinogen: Molecular and Genetic Aspects of Congenital Disorders
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P2860
Fibrinogen brescia: hepatic endoplasmic reticulum storage and hypofibrinogenemia because of a gamma284 Gly-->Arg mutation
description
2000 nî lūn-bûn
@nan
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
2000年论文
@zh
2000年论文
@zh-cn
name
Fibrinogen brescia: hepatic en ...... a gamma284 Gly-->Arg mutation
@ast
Fibrinogen brescia: hepatic en ...... a gamma284 Gly-->Arg mutation
@en
type
label
Fibrinogen brescia: hepatic en ...... a gamma284 Gly-->Arg mutation
@ast
Fibrinogen brescia: hepatic en ...... a gamma284 Gly-->Arg mutation
@en
prefLabel
Fibrinogen brescia: hepatic en ...... a gamma284 Gly-->Arg mutation
@ast
Fibrinogen brescia: hepatic en ...... a gamma284 Gly-->Arg mutation
@en
P2093
P2860
P1476
Fibrinogen brescia: hepatic en ...... a gamma284 Gly-->Arg mutation
@en
P2093
P2860
P304
P356
10.1016/S0002-9440(10)64530-0
P407
P577
2000-07-01T00:00:00Z