phenylalanine has been researched along with Angiohemophilia in 3 studies
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 0 (0.00) | 18.7374 |
1990's | 1 (33.33) | 18.2507 |
2000's | 1 (33.33) | 29.6817 |
2010's | 1 (33.33) | 24.3611 |
2020's | 0 (0.00) | 2.80 |
Authors | Studies |
---|---|
Barbon, G; Casonato, A; Cattini, GM; Daidone, V; Gallinaro, L; Pizzo, P; Pontara, E; Zampese, E | 1 |
Battiston, M; Casonato, A; De Marco, L; Gallinaro, L; Mazzuccato, M; Pagnan, A; Ruggeri, ZM; Sztukowska, M | 1 |
Dechavanne, M; Gaucher, C; Hanss, M; Mazurier, C | 1 |
3 other study(ies) available for phenylalanine and Angiohemophilia
Article | Year |
---|---|
Loss of cysteine 584 impairs the storage and release, but not the synthesis of von Willebrand factor.
Topics: Adult; Aged; Amino Acid Substitution; Culture Media, Conditioned; Cysteine; DNA Mutational Analysis; Endoplasmic Reticulum; Female; Genetic Predisposition to Disease; Golgi Apparatus; HEK293 Cells; Hemostasis; Humans; Male; Mutation, Missense; Phenotype; Phenylalanine; Protein Multimerization; Protein Transport; Transfection; von Willebrand Diseases; von Willebrand Factor; Weibel-Palade Bodies | 2014 |
Altered von Willebrand factor subunit proteolysis and multimer processing associated with the Cys2362Phe mutation in the B2 domain.
Topics: ADAM Proteins; ADAMTS13 Protein; Adult; Blood Coagulation Tests; Cysteine; Female; Heterozygote; Homozygote; Humans; Molecular Weight; Mutation, Missense; Pedigree; Phenotype; Phenylalanine; Protein Conformation; Protein Processing, Post-Translational; Protein Structure, Tertiary; Protein Subunits; Severity of Illness Index; von Willebrand Diseases; von Willebrand Factor | 2007 |
Substitution of cysteine for phenylalanine 751 in mature von Willebrand factor is a novel candidate mutation in a family with type IIA von Willebrand disease.
Topics: Cysteine; Exons; Genotype; Humans; Mutation; Pedigree; Phenotype; Phenylalanine; Polymerase Chain Reaction; Polymorphism, Genetic; von Willebrand Diseases; von Willebrand Factor | 1993 |