US2009215065A1PendingUtilityA1

Atlastin

Assignee: UNIV MICHIGANPriority: Sep 21, 2001Filed: Mar 27, 2009Published: Aug 27, 2009
Est. expirySep 21, 2021(expired)· nominal 20-yr term from priority
A61P 25/08C12N 9/16A61K 38/00A61P 21/00C07K 14/4722G01N 33/6893C12Q 2600/172C07K 14/47C12Q 1/6883C12Q 2600/156Y02A90/10
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Claims

Abstract

The present invention relates to methods and compositions of a novel gene and the peptide encoded by the gene. Mutations in the gene, named atlastin, are factors in the disease Hereditary Spastic Paraplegia and related disorders. The present invention will be used for the in the research, diagnosis and treatment of these disabling diseases.

Claims

exact text as granted — not AI-modified
1 . A method of identifying subjects who have HSP and those at risk of developing HSP comprising:
 a) providing nucleic acid from a subject, wherein the nucleic acid comprises a atlastin gene; and   b) detecting the presence or absence of one or more variations in the atlastin gene.

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