Daniela De Rocco Barbara Zieger Helen Platokouki Paula G Heller Annalisa Pastore Roberta Bottega Patrizia Noris Serena Barozzi Ana C Glembotsky Helen Pergantou Carlo L Balduini Anna Savoia Alessandro Pecci
10.1016/j.ejmg.2012.10.009
Eur J Med Genet
2013 Jan;56(1):7-12.
NO-CC CODE
https://pubmed.ncbi.nlm.nih.gov/23123319/
Molecular Motor Proteins / genetics Mutation Myosin Heavy Chains / genetics Thrombocytopenia / genetics
Molecular Motor Proteins / genetics Mutation Myosin Heavy Chains / genetics Thrombocytopenia / genetics Case Reports Research Support, Non-U.S. Gov't Adolescent Adult Amino Acid Sequence Amino Acid Substitution Base Sequence Child Child, Preschool Exons Female Genes, Dominant Genetic Association Studies Humans Male Middle Aged Models, Molecular Molecular Motor Proteins / chemistry Molecular Sequence Data Myosin Heavy Chains / chemistry Pedigree Protein Conformation Sequence Alignment Syndrome Thrombocytopenia / diagnosis Young Adult MYH9 protein, human Molecular Motor Proteins Myosin Heavy Chains
PMC3546164
23123319
MYH9-related disease: five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations
2013