Mutations in contaction associated protein 2 (cntnap2) are...

C - Chemistry – Metallurgy – 12 – Q

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C12Q 1/68 (2006.01) C40B 30/04 (2006.01) G01N 33/53 (2006.01) G01N 33/68 (2006.01)

Patent

CA 2711608

The present invention provides compositions and methods for the examination of cells, tissues, and fluids, collectively known as body samples, to identify human subjects at-risk of developing Autism Spectrum Disorder by detecting a chromosomal abnormality or variant in the CNTNAP2 gene, the AUTS2 gene, or both.

L'invention concerne des compositions et procédés pour l'examen de cellules, de tissus et de fluides, collectivement connus sous le nom d'échantillons corporels, afin d'identifier des sujets humains présentant un risque de développement d'un trouble du spectre de l'autisme par détection d'une anomalie chromosomique ou d'un variant du gène CNTNAP2, du gène AUTS2, ou des deux gènes.

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