Errors in Huntington disease diagnostic test caused by trinucleotide deletion in the IT15 gene.
Gellera
C
C
Meoni
C
C
Castellotti
B
B
Zappacosta
B
B
Girotti
F
F
Taroni
F
F
DiDonato
S
S
D001483:Base Sequence; D006801:Humans; D000071058:Huntingtin Protein; D006816:Huntington Disease / Q000175:diagnosis* / Q000235:genetics; D008969:Molecular Sequence Data; D009154:Mutation; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D016133:Polymerase Chain Reaction; D011506:Proteins / Q000235:genetics*; D015203:Reproducibility of Results; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion; D018911:Trinucleotide Repeats
C086055:HTT protein, human; D000071058:Huntingtin Protein; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D011506:Proteins