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The Hypomorphic Variant p.(Gly624Asp) in COL4A5 as a Possible Cause for an Unexpected Severe Phenotype in a Family With X-Linked Alport Syndrome
Date Issued
2019
Author(s)
Macheroux, Eva Pauline
Braunisch, Matthias C.
Pucci Pegler, Stephanie
Satanovskij, Robin
Riedhammer, Korbinian M.
Günthner, Roman
Nagel, Mato
Renders, Lutz
Hoefele, Julia
DOI
10.3389/fped.2019.00485
File(s)
No Thumbnail Available
Name
fped-07-00485.pdf
Size
422.71 KB
Checksum (MD5)
666029edb9158910c1be441b70a8aada
