http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-2014148445-A1

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assignee http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_8268e39ce70ff2ad19742e2a21d5a90c
classificationCPCAdditional http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-156
classificationCPCInventive http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6883
classificationIPCInventive http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-68
filingDate 2013-03-15-04:00^^<http://www.w3.org/2001/XMLSchema#date>
inventor http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_d7761249af01a596c9cb995fb705971f
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_13be47c4e2a2fe67426b835912c72181
publicationDate 2014-05-29-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber US-2014148445-A1
titleOfInvention Methods of Detecting Amyotrophic Lateral Sclerosis (ALS)
abstract In one aspect, the invention is directed to a method of identifying an individual that has amyotrophic lateral sclerosis (ALS) or is at risk of developing ALS comprising detecting one or more alterations in a profilin 1 (PFN1) sequence of an individual in need thereof compared to a wild type profilin sequence. In another aspect, the invention is directed to a method of identifying an individual that has amyotrophic lateral sclerosis (ALS) or is at risk of developing ALS comprising selectively sequencing a profilin 1 (PFN1) sequence of an individual in need thereof; and detecting one or more alterations in the PFN1 sequence of the individual. If the one or more alterations are detected then the individual has ALS.
isCitedBy http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CN-110831616-A
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/WO-2015196114-A3
priorityDate 2012-11-26-04:00^^<http://www.w3.org/2001/XMLSchema#date>
type http://data.epo.org/linked-data/def/patent/Publication

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