C - Chemistry – Metallurgy – 12 – N
Patent
C - Chemistry, Metallurgy
12
N
C12N 15/12 (2006.01) C07H 21/04 (2006.01) C07K 14/47 (2006.01) C12Q 1/68 (2006.01)
Patent
CA 2129823
Diagnostics and procedures are provided for detecting myotonic dystrophy in humans. The diagnostics and procedures are based on the detection of a CTG trinucleotide repeat in a variable length polymorphism of the myotonic dystrophy gene derived from the region of human chromosome 19q13 containing the myotonic dystrophy locus.
L'invention se rapporte à des méthodes diagnostiques et à des processus permettant de détecter la dystrophie myotonique chez les humains. Ces méthodes diagnostiques et ces processus sont basés sur la détection d'une séquence répétitive trinucléotidique CTG dans un polymorphisme de longueur variable du gène de dystrophie myotonique dérivé de la région du chromosome humain 19q13 contenant le locus de dystrophie myotonique.
Korneluk Robert G.
Mahadevan Mani S.
Sim & Mcburney
Universite D'ottawa - University Of Ottawa
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