asparagine and Bernard-Soulier Syndrome

asparagine 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's2 (66.67)18.2507
2000's1 (33.33)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Carson, NL; Drouin, J; Laneuville, O1
Brenner, B; Clemetson, JM; Clemetson, KJ; Kyrle, PA1
Javela, K; Jouppila, J; Juvonen, E; Kekomäki, R; Koskela, S; Nyblom, O; Partanen, J1

Other Studies

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

ArticleYear
Compound heterozygosity for a novel nine-nucleotide deletion and the Asn45Ser missense mutation in the glycoprotein IX gene in a patient with Bernard-Soulier syndrome.
    American journal of hematology, 2005, Volume: 78, Issue:1

    Topics: Asparagine; Base Sequence; Bernard-Soulier Syndrome; Child; DNA; Female; Flow Cytometry; Gene Deletion; Heterozygote; Humans; Mutation, Missense; Platelet Glycoprotein GPIb-IX Complex; Serine

2005
Variant Bernard-Soulier syndrome associated with a homozygous mutation in the leucine-rich domain of glycoprotein IX.
    Blood, 1994, Aug-15, Volume: 84, Issue:4

    Topics: Adult; Amino Acid Sequence; Asparagine; Base Sequence; Bernard-Soulier Syndrome; Blood Platelets; Blotting, Western; DNA; DNA Primers; Female; Genetic Variation; Humans; Leucine; Male; Molecular Sequence Data; Pedigree; Platelet Aggregation; Platelet Membrane Glycoproteins; Point Mutation; Polymerase Chain Reaction; Reference Values; Serine

1994
Variant Bernard-Soulier syndrome due to homozygous Asn45Ser mutation in the platelet glycoprotein (GP) IX in seven patients of five unrelated Finnish families.
    European journal of haematology, 1999, Volume: 62, Issue:4

    Topics: Amino Acid Substitution; Asparagine; Bernard-Soulier Syndrome; Female; Finland; Genetic Variation; Heterozygote; Homozygote; Humans; Male; Pedigree; Platelet Glycoprotein GPIb-IX Complex; Point Mutation; Polymorphism, Genetic; Polymorphism, Restriction Fragment Length; Polymorphism, Single-Stranded Conformational; Serine

1999