C - Chemistry – Metallurgy – 12 – Q
Patent
C - Chemistry, Metallurgy
12
Q
C12Q 1/68 (2006.01) G01N 33/566 (2006.01) G01N 33/573 (2006.01)
Patent
CA 2235593
Methods are described for detecting the presence or absence of a four amino acid motif (VRXQ) in expressed proteins that arise from aberrant alternative splicing of pre-mRNA in genes associated with normal neurological function. The presence of these variants suggest that mutational events in these genes have occurred. Nucleotide sequences and nitron-exon junctional sequences of examples of this splicing variant are provided.
L'invention concerne des méthodes de détection de la présence ou l'absence d'un motif à quatre acides aminés (VRXQ) dans des protéines exprimées issues d'un épissage alterne aberrant de pré-ARNm dans des gènes associés à la fonction neurologique normale. La présence de ces variantes d'épissage suggère que des mutations se sont produites dans ces gènes. Des séquences nucléotidiques et des séquence de jonction intron-exon des exemples de variantes d'épissage sont également décrites.
Goate Alison M.
Hardy John A.
Goate Alison M.
Gowling Lafleur Henderson Llp
Hardy John A.
University Of South Florida
Washington University School Of Medicine
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