Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies.
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DOI: 10.1016/j.kint.2017.10.016
Abstract: The clinical diagnosis of inherited renal tubulopathies can be challenging as they are rare and characterized by significant phenotypic variability. Advances in sequencing technologies facilitate the establishment of a molecular diagnosis. Therefore, we determined the… read more here.
Keywords: genetic testing; clinical diagnosis; sequencing genes; diagnosis ... See more keywords