Als2 gene and amyotrophic lateral sclerosis type 2

Details Als2 gene and amyotrophic lateral sclerosis type 2 Als2 gene and amyotrophic lateral sclerosis type 2

C - Chemistry, Metallurgy

12

N

C12N 15/12 (2006.01) A01K 67/027 (2006.01) A61K 31/7088 (2006.01) A61K 38/17 (2006.01) C07K 14/47 (2006.01) C07K 16/18 (2006.01) C12N 15/11 (2006.01) C12Q 1/68 (2006.01) G01N 33/53 (2006.01) G01N 33/68 (2006.01) A61K 38/00 (2006.01) A61K 48/00 (2006.01)

Patent

CA 2437960

Candidate gene causing Amyotrophic Lateral Sclerosis type 2 (ALS2), encoding a putative GTP exchange factor (GEF) or GTPase regulatory factor.

L'invention concerne un gène humain associé à la sclérose latérale amyotrophique de type 2 (SLA2). Le gène présent dans la région q33 du second chromosome. L'invention concerne également des versions mutantes du gène, ainsi que des acides nucléiques isolés dérivés du gène et des peptides codés par ces versions mutantes. L'invention concerne enfin des procédés de diagnostique de la SLA2.

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