http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-2006073564-A1

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filingDate 2005-10-04-04:00^^<http://www.w3.org/2001/XMLSchema#date>
inventor http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_bd2bb150165a979f5145d7509600bd81
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publicationDate 2006-04-06-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber US-2006073564-A1
titleOfInvention Nucleic acid molecule encoding a (poly)peptide co-segregating in mutated form with Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED)
abstract The present invention relates to a nucleic acid molecule encoding a (poly)peptide co-segregating in mutated form with Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED). In addition, the invention relates to a mammalian, preferably murine, homologue of the above nucleic acid molecule. The present invention further relates to a nucleic acid molecule deviating by at least one mutation from the nucleic acid molecule described above wherein said mutation co-segregates with APECED and is an insertion, a deletion, a substitution and/or an inversion, and wherein said mutation further results in a loss or a gain of function of the (poly)peptide encoded by said mutated nucleic acid molecule. Furthermore, the present invention relates to a vector comprising the nucleic acid molecules described above and to a host transformed with said vector. In addition, the present invention relates to a process of recombinantly producing a (poly)peptide encoded by the nucleic acid molecules described above comprising culturing or raising said host and isolating said (poly)peptide from said culture or said host. The present invention further relates to the (poly)peptide encoded by said nucleic acid molecules or produced by the process described above. Additionally, the present invention relates to an antibody that specifically recognizes said (poly)peptides. Moreover, the present invention relates to a method for testing for a carriership for APECED or for a corresponding disease state comprising testing a sample obtained from a prospective patient or from a person suspected of carrying a predisposition for a mutation in the wild-type nucleic acid molecule described above or a mutated form of the (poly)peptide encoded by said mutated nucleic acid molecule in an immuno-assay using the antibody described above.
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http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCP96794
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCB2S4S6
http://rdf.ncbi.nlm.nih.gov/pubchem/gene/GID57203972
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCQ5JGT7
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCQ3IKN5
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCP95690
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCA8FLX6
http://rdf.ncbi.nlm.nih.gov/pubchem/gene/GID8617570
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCF1NKA3
http://rdf.ncbi.nlm.nih.gov/pubchem/gene/GID30765
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCO69537
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCQ3IBU5
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCB7JVC2
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCF1NJ08
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCQ6GG69
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCB2RJJ6
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCQ8NVG5
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCP26916
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCQ5LNY7
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCQ6GEV6
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCA8FID5
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCB7JPZ4
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCQ8VVL0
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCQ9CHX5
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCQ5LIY6
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCQ9CHT5
http://rdf.ncbi.nlm.nih.gov/pubchem/gene/GID4811496
http://rdf.ncbi.nlm.nih.gov/pubchem/gene/GID100009084
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCQ6GBX8
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCA8FFQ0
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCP10893
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCQ3KSV5
http://rdf.ncbi.nlm.nih.gov/pubchem/gene/GID57208956
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCB7JHF2
http://rdf.ncbi.nlm.nih.gov/pubchem/compound/CID19649
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCA1BDK4
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCQ5LHP5
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCQ0BVB8

Total number of triples: 1617.