Clinical and genetic analysis of the autosomal Alport syndrome - Rosado, Consolación
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This work is a clinical and genetic analysis of the autosomal Alport syndrome and collagen IV nephropathy (alpha 3/alpha 4). It contains the description of three new pathogenic mutations which lead to autosomal dominant Alport syndrome: one in the COL4A3 gene and the other two in the COL4A4 gene. It also contains the study of the clinical course of the autosomal dominant Alport syndrome in a spanish population, which is as agressive as the one in the other paths of inheritance.

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Produktbeschreibung
This work is a clinical and genetic analysis of the autosomal Alport syndrome and collagen IV nephropathy (alpha 3/alpha 4). It contains the description of three new pathogenic mutations which lead to autosomal dominant Alport syndrome: one in the COL4A3 gene and the other two in the COL4A4 gene. It also contains the study of the clinical course of the autosomal dominant Alport syndrome in a spanish population, which is as agressive as the one in the other paths of inheritance.
Autorenporträt
Degree in Medicine from Salamanca University, obtaining the doctoral thesis from Salamanca University in 2013. Master in Haemodialysis from Complutense University of Madrid in 2013. Diploma in Public Health from Carlos III Health Institute (Spain) in 2014.