The Hypomorphic Variant p.(Gly624Asp) in COL4A5 as a Possible Cause for an Unexpected Severe Phenotype in a Family With X-Linked Alport Syndrome

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Title:: The Hypomorphic Variant p.(Gly624Asp) in COL4A5 as a Possible Cause for an Unexpected Severe Phenotype in a Family With X-Linked Alport Syndrome
Document type:: Zeitschriftenaufsatz
Author(s):: Macheroux, Eva Pauline; Braunisch, Matthias C.; Pucci Pegler, Stephanie; Satanovskij, Robin; Riedhammer, Korbinian M.; Günthner, Roman; Gross, Oliver; Nagel, Mato; Renders, Lutz; Hoefele, Julia
Journal title:: Frontiers in Pediatrics
Year:: 2019
Journal volume:: 7
Fulltext / DOI:: doi:10.3389/fped.2019.00485
Publisher:: Frontiers Media SA
E-ISSN:: 2296-2360
Date of publication:: 26.11.2019
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