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filingDate 2000-07-14-04:00^^<http://www.w3.org/2001/XMLSchema#date>
inventor http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_450c11f999c1d7b34e0ce5e101cf6d3c
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publicationDate 2001-11-21-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber EP-1156123-A1
titleOfInvention Method for detecting a variation of GH1 as indicator of growth hormone dysfunction
abstract A detection method for detecting a variation in GH1 effective to act as annindicator of GH dysfunction in a patient, comprises the steps of comparing a testnsample comprising a nucleotide sequence of the human GH1 gene from the patientnwith a standard sequence known to be that of the human GH1 gene. A differencenbetween the test sample sequence and the standard sequence indicates the presence ofna variation effective to act as an indicator of GH dysfunction (hereinafter "GHnvariant"). The test sample is obtained from a patient exhibiting the followingncumulative criteria:n (i) height velocity below the 25 th centile for age; (ii) bone age delay according to the Tanner-Whitehouse scale of at least twonyears when compared with chronological age; and (iii) no other disorder known to cause inclusion in criteria (i) to (ii) above. n Also disclosed are mutations thereby detected, and their use in screeningnpatients for growth hormone irregularities or for producing variant proteins suitable forntreating such irregularities.
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http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCP08998
http://rdf.ncbi.nlm.nih.gov/pubchem/gene/GID397201
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCP68273
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCP81025
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCP08025
http://rdf.ncbi.nlm.nih.gov/pubchem/gene/GID480618
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCP29971
http://rdf.ncbi.nlm.nih.gov/pubchem/gene/GID554243
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCQ9GKA1
http://rdf.ncbi.nlm.nih.gov/pubchem/gene/GID81668
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCP68260
http://rdf.ncbi.nlm.nih.gov/pubchem/compound/CID64968
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCQ1KVQ9
http://rdf.ncbi.nlm.nih.gov/pubchem/gene/GID18736
http://rdf.ncbi.nlm.nih.gov/pubchem/substance/SID419581612
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCP45655
http://rdf.ncbi.nlm.nih.gov/pubchem/gene/GID793334
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCP45654
http://rdf.ncbi.nlm.nih.gov/pubchem/gene/GID25235
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCP10298
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCP45643
http://rdf.ncbi.nlm.nih.gov/pubchem/compound/CID16132283
http://rdf.ncbi.nlm.nih.gov/pubchem/gene/GID403795
http://rdf.ncbi.nlm.nih.gov/pubchem/substance/SID419593497
http://rdf.ncbi.nlm.nih.gov/pubchem/gene/GID461925
http://rdf.ncbi.nlm.nih.gov/pubchem/gene/GID378781
http://rdf.ncbi.nlm.nih.gov/pubchem/gene/GID484185
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCP08591
http://rdf.ncbi.nlm.nih.gov/pubchem/compound/CID16132265
http://rdf.ncbi.nlm.nih.gov/pubchem/substance/SID419581366
http://rdf.ncbi.nlm.nih.gov/pubchem/gene/GID280877
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCP01248
http://rdf.ncbi.nlm.nih.gov/pubchem/substance/SID419554785
http://rdf.ncbi.nlm.nih.gov/pubchem/gene/GID741055
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCP01246
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCP29335
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCQ9IB11
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCF6RG76
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCP01245
http://rdf.ncbi.nlm.nih.gov/pubchem/compound/CID2803
http://rdf.ncbi.nlm.nih.gov/pubchem/gene/GID443329
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCQ9I9M4
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCP01244
http://rdf.ncbi.nlm.nih.gov/pubchem/gene/GID56132
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCP01241
http://rdf.ncbi.nlm.nih.gov/pubchem/gene/GID19127
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCQ9I9L5
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCO93566
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCP01308
http://rdf.ncbi.nlm.nih.gov/pubchem/gene/GID16000
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCO13188
http://rdf.ncbi.nlm.nih.gov/pubchem/gene/GID373617
http://rdf.ncbi.nlm.nih.gov/pubchem/gene/GID6646
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCP07455
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCQ28933
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCP09687
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCQ7YRR6
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCP07453
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCQ8MI73
http://rdf.ncbi.nlm.nih.gov/pubchem/gene/GID5618
http://rdf.ncbi.nlm.nih.gov/pubchem/gene/GID5626
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCP31297
http://rdf.ncbi.nlm.nih.gov/pubchem/gene/GID100689317
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCO12980
http://rdf.ncbi.nlm.nih.gov/pubchem/gene/GID24592
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCP11228
http://rdf.ncbi.nlm.nih.gov/pubchem/substance/SID226411642
http://rdf.ncbi.nlm.nih.gov/pubchem/gene/GID109552
http://rdf.ncbi.nlm.nih.gov/pubchem/gene/GID100001377
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCJ9JHM1
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCP09682
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCQ7YQD2
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCQ07221
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCQ9W7R2
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCQ7YQB8
http://rdf.ncbi.nlm.nih.gov/pubchem/substance/SID419521105
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCQ95222
http://rdf.ncbi.nlm.nih.gov/pubchem/compound/CID165295
http://rdf.ncbi.nlm.nih.gov/pubchem/gene/GID374199
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCP22077
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCQ9W6R8

Total number of triples: 391.