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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
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
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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