Bernard-Soulier syndrome caused by a dinucleotide deletion and reading frameshift in the region encoding the glycoprotein Ibα transmembrane domain

Medicine & Life Sciences

• Bernard-Soulier Syndrome 100%
• Platelet Glycoprotein GPIb-IX Complex 89%
• Reading 53%
• Glycoproteins 12%
• Sequence Deletion 10%
• Mutation 10%
• Codon 9%
• Peptides 9%
• Amino Acid Sequence 8%
• Blood Platelets 7%
• Amino Acids 6%
• Silent Mutation 6%
• Tandem Repeat Sequences 6%
• Genes 5%
• 5' Untranslated Regions 5%
• Cricetulus 5%
• European Continental Ancestry Group 4%
• Ovary 4%
• Exons 3%
• Molecular Biology 3%
• Complementary DNA 3%
• Nucleotides 3%
• Alleles 3%
• Cell Membrane 3%
• Phenotype 2%
• Cell Line 2%
• Antibodies 2%
• Proteins 1%

Chemistry

• Dinucleotide 66%
• Mutation 22%
• Polypeptide 9%
• Plasma 7%
• Amino Acid Sequence 7%
• Disorder 6%
• Complementary DNA 3%
• Degradation Product 3%
• White 3%
• Nucleotide 3%
• Acid 2%
• Flow 2%
• Substitution Reaction 2%
• Protein 1%