A mutation in the acyl-coenzyme A binding domain-containing protein 5 gene (ACBD5 ) identified in autosomal dominant thrombocytopenia.
Punzo
F
F
Mientjes
E J
EJ
Rohe
C F
CF
Scianguetta
S
S
Amendola
G
G
Oostra
B A
BA
Bertoli-Avella
A M
AM
Perrotta
S
S
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*
C548478:ACBD5 protein, human; D000214:Acyl Coenzyme A; D048868:Adaptor Proteins, Signal Transducing; D008565:Membrane Proteins