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This study is the first systematic investigation of <jats:italic>NPHS2<\/jats:italic> gene mutations in Turkish children with familial SRNS. If this mutation is a hot spot of mutation in the Turkish population, screening this novel mutation in Turkish children with SRNS may be of great clinical use to prevent unnecessary treatment modalities, provide accurate genetic counselling and predict the prognosis of the disease.<\/jats:p>","DOI":"10.1111\/j.1440-1797.2004.00324.x","type":"journal-article","created":{"date-parts":[[2004,10,22]],"date-time":"2004-10-22T10:10:25Z","timestamp":1098439825000},"page":"310-312","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["A novel <i>NPHS2<\/i> gene mutation in Turkish children with familial steroid\u2010resistant nephrotic syndrome"],"prefix":"10.1111","volume":"9","author":[{"given":"ESRA ARUN","family":"OZER","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"NEJAT","family":"AKSU","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"HAKAN","family":"ERDOGAN","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"ONDER","family":"YAVASCAN","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"ORHAN","family":"KARA","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"OLIVIER","family":"GRIBOUVAL","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"MARIE\u2010CLAIRE","family":"GUBLER","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"CORINNE","family":"ANTIGNAC","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,10,22]]},"reference":[{"key":"e_1_2_4_2_2","first-page":"765","volume-title":"Pediatric Nephrology","author":"Holmberg C","year":"1999"},{"key":"e_1_2_4_3_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI0215094"},{"key":"e_1_2_4_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/74166"},{"key":"e_1_2_4_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/73456"},{"key":"e_1_2_4_6_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1600-0854.2003.00148.x"},{"key":"e_1_2_4_7_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.C100452200"},{"key":"e_1_2_4_8_2","doi-asserted-by":"publisher","DOI":"10.1096\/fj.02-0242fje"},{"key":"e_1_2_4_9_2","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.V132388"},{"key":"e_1_2_4_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0959-437X(00)00197-0"},{"key":"e_1_2_4_11_2","doi-asserted-by":"publisher","DOI":"10.1097\/01.ASN.0000060578.79050.E0"}],"container-title":["Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1440-1797.2004.00324.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1440-1797.2004.00324.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T15:51:14Z","timestamp":1696953074000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1440-1797.2004.00324.x"}},"subtitle":["Case Report"],"short-title":[],"issued":{"date-parts":[[2004,10]]},"references-count":10,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2004,10]]}},"alternative-id":["10.1111\/j.1440-1797.2004.00324.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1440-1797.2004.00324.x","archive":["Portico"],"relation":{},"ISSN":["1320-5358","1440-1797"],"issn-type":[{"value":"1320-5358","type":"print"},{"value":"1440-1797","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,10]]},"assertion":[{"value":"2004-10-22","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}