Associated Papers
Low frequency of parental mosaicism in de novo COL4A5 mutations in X-linked Alport syndrome.
Helle OMB et al.
Molecular Genetics & Genomic Medicine, 2020
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Genetic testing for X-linked Alport syndrome by direct sequencing of COL4A5 cDNA from hair root RNA samples.
Tazón-Vega B et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2007
A new point mutation in the COL4A5 gene described in a Spanish family with X-linked Alport syndrome.
Palenzuela L et al.
Nephron, 2002
Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome.
Hertz JM et al.
Human Mutation, 2001
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