asparagine has been researched along with Bernard-Soulier Syndrome in 3 studies
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 0 (0.00) | 18.7374 |
1990's | 2 (66.67) | 18.2507 |
2000's | 1 (33.33) | 29.6817 |
2010's | 0 (0.00) | 24.3611 |
2020's | 0 (0.00) | 2.80 |
Authors | Studies |
---|---|
Carson, NL; Drouin, J; Laneuville, O | 1 |
Brenner, B; Clemetson, JM; Clemetson, KJ; Kyrle, PA | 1 |
Javela, K; Jouppila, J; Juvonen, E; Kekomäki, R; Koskela, S; Nyblom, O; Partanen, J | 1 |
3 other study(ies) available for asparagine and Bernard-Soulier Syndrome
Article | Year |
---|---|
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.
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.
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.
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 |