Szabó, Tamás and Pethő-Orosz, Petronella Éva and Balogh, Eszter and Jávorszky, Eszter and Máttyus, István and Bereczki, Csaba and Maróti, Zoltán and Kalmár, Tibor and Szabó, Attila and Reusz, György and Várkonyi, Ildikó and Orosz, Orsolya and Madar, László and Balla, György and Kappelmayer, János and Tory, Kálmán and Balogh, István (2018) Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies. PEDIATRIC NEPHROLOGY, 33 (10). pp. 1713-1721. ISSN 0931-041X
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Szabo2018_Article_ComprehensiveGeneticTestingInC.pdf Restricted to Repository staff only Download (703kB) | Request a copy |
Official URL: https://doi.org/10.1007/s00467-018-3992-5
Item Type: | Article |
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Uncontrolled Keywords: | CNV; duplication; polycystic kidney; phenocopy; Second locus mutation; |
Subjects: | R Medicine / orvostudomány > R1 Medicine (General) / orvostudomány általában |
SWORD Depositor: | MTMT SWORD |
Depositing User: | MTMT SWORD |
Date Deposited: | 21 May 2020 12:49 |
Last Modified: | 21 May 2020 12:49 |
URI: | http://real.mtak.hu/id/eprint/108951 |
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