CareLit · DOI-Nachweis · Klinische Pädiatrie
High proportion of novel mutations in patients with Alport syndrome
DOI 10.1055/s-0031-1273864
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Nachweis in CareLit
Autor:innenJ Höfele, S Weber, S Rath, I Rost, HG Klein
ZeitschriftKlinische Pädiatrie
Ausgabe03/2011
Jahrgang / SeitenNicht angegeben
Kernaussage aus der Literatur
Abstract-Vorschau
Alport syndrome (AS) is characterized by ultrastructural abnormalities of the glomerular basement membrane (GBR) with progression to end-stage renal disease (ESRD), eye abnormalities and high-tone sensorineural deafness [1]. Mutations in COL4A3 and COL4A4 genes can be associated with an autosomal recessive or dominant type, whereas mutations in COL4A5 cause X-linked AS. The X-linked form predominantly affects male i…
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Zitierempfehlung
J Höfele, S Weber, S Rath, I Rost, HG Klein (2011) High proportion of novel mutations in patients with Alport syndrome. Klinische Pädiatrie (03). https://doi.org/10.1055/s-0031-1273864
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