title: A mutation in the acyl-coenzyme A binding domain-containing protein 5 gene (ACBD5 ) identified in autosomal dominant thrombocytopenia.
authors.forename: F
authors.initials: F
authors.lastname: Punzo
authors.forename: E J
authors.initials: EJ
authors.lastname: Mientjes
authors.forename: C F
authors.initials: CF
authors.lastname: Rohe
authors.forename: S
authors.initials: S
authors.lastname: Scianguetta
authors.forename: G
authors.initials: G
authors.lastname: Amendola
authors.forename: B A
authors.initials: BA
authors.lastname: Oostra
authors.forename: A M
authors.initials: AM
authors.lastname: Bertoli-Avella
authors.forename: S
authors.initials: S
authors.lastname: Perrotta
mesh_terms: D000214:Acyl Coenzyme A / Q000737:chemistry*; D048868:Adaptor Proteins, Signal Transducing / Q000737:chemistry* / Q000235:genetics*; D000595:Amino Acid Sequence; D005091:Exons; D005260:Female; D005799:Genes, Dominant; D014644:Genetic Variation; D006239:Haplotypes; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000737:chemistry* / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D017434:Protein Structure, Tertiary; D017386:Sequence Homology, Amino Acid; D013921:Thrombocytopenia / Q000097:blood / Q000235:genetics*
chemical_list: C548478:ACBD5 protein, human; D000214:Acyl Coenzyme A; D048868:Adaptor Proteins, Signal Transducing; D008565:Membrane Proteins