http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CA-2410520-A1

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filingDate 2001-05-23-04:00^^<http://www.w3.org/2001/XMLSchema#date>
inventor http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_29b447f892d7322fa31c9e9383984298
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_3133ffd5f4b9500cef0605d4d8abf9cd
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_f9d391431653cb71838195c8911e79c0
publicationDate 2001-11-29-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber CA-2410520-A1
titleOfInvention Mutated eukariotic translation initiation factor 2 alpha kinase 3, eif2ak3, in patients with neonatal insulin-dependent diabetes and multiple epiphyseal dysplasia (wolcott-rallison syndrome)
abstract The present invention is directed to isolated variant nucleic sequence of genomic sequence encoding the translation initiation factor 2 alpha kinase 3 (EIF2AK3) capable of inducing the Wolcott-Rallison syndrome (WRS) or affecting the risk of developing diabetes and/or other pathology related to WRS, and to the polypeptide encoded by these sequences. The invention also relates to vectors or transformed cells containing these sequences. The present invention further concerns method and kit for determining in a subject the risk of developing diabetes and/or other pathology related to WRS and method for selecting compound which can be used as medicament for the prevention and/or treatment of these pathologies.
priorityDate 2000-05-23-04:00^^<http://www.w3.org/2001/XMLSchema#date>
type http://data.epo.org/linked-data/def/patent/Publication

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http://rdf.ncbi.nlm.nih.gov/pubchem/compound/CID22935675
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http://rdf.ncbi.nlm.nih.gov/pubchem/substance/SID426383824
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Total number of triples: 706.