phenylalanine and Bernard-Soulier Syndrome

phenylalanine has been researched along with Bernard-Soulier Syndrome in 3 studies

Research

Studies (3)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's3 (100.00)18.2507
2000's0 (0.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Noris, P; Simsek, S; Stibbe, J; von dem Borne, AE1
Akiba, J; Hayashi, T; Sasaki, H; Satoh, S; Suzuki, K; Tajima, K; Yahagi, A1
Cunningham, D; Lyle, VA; Miller, JL1

Other Studies

3 other study(ies) available for phenylalanine and Bernard-Soulier Syndrome

ArticleYear
A phenylalanine-55 to serine amino-acid substitution in the human glycoprotein IX leucine-rich repeat is associated with Bernard-Soulier syndrome.
    British journal of haematology, 1997, Volume: 97, Issue:2

    Topics: Aged; Amino Acid Sequence; Bernard-Soulier Syndrome; Flow Cytometry; Homozygote; Humans; Male; Pedigree; Phenylalanine; Platelet Glycoprotein GPIb-IX Complex; Point Mutation; Sequence Analysis; Serine

1997
Novel point mutation in the leucine-rich motif of the platelet glycoprotein IX associated with Bernard-Soulier syndrome.
    British journal of haematology, 1997, Volume: 99, Issue:4

    Topics: Adult; Autoradiography; Bernard-Soulier Syndrome; Blotting, Western; Cytosine; Female; Flow Cytometry; Hemorrhagic Disorders; Humans; Molecular Sequence Data; Phenylalanine; Platelet Glycoprotein GPIb-IX Complex; Point Mutation; Polymerase Chain Reaction; Serine; Thiamine

1997
Mutation of leucine-57 to phenylalanine in a platelet glycoprotein Ib alpha leucine tandem repeat occurring in patients with an autosomal dominant variant of Bernard-Soulier disease.
    Blood, 1992, Jan-15, Volume: 79, Issue:2

    Topics: Adolescent; Bernard-Soulier Syndrome; Blood Platelets; DNA; Electrophoresis, Polyacrylamide Gel; Humans; Leucine; Male; Mutation; Nucleic Acid Hybridization; Pedigree; Phenylalanine; Platelet Membrane Glycoproteins; Polymerase Chain Reaction; Repetitive Sequences, Nucleic Acid; Ristocetin; von Willebrand Factor

1992