Ontology highlight
ABSTRACT:
SUBMITTER: Artuso R
PROVIDER: S-EPMC3234521 | biostudies-literature | 2012 Jan
REPOSITORIES: biostudies-literature
Artuso Rosangela R Fallerini Chiara C Dosa Laura L Scionti Francesca F Clementi Maurizio M Garosi Guido G Massella Laura L Epistolato Maria Carmela MC Mancini Roberta R Mari Francesca F Longo Ilaria I Ariani Francesca F Renieri Alessandra A Bruttini Mirella M
European journal of human genetics : EJHG 20110907 1
Alport syndrome (ATS) is a hereditary nephropathy often associated with sensorineural hypoacusis and ocular abnormalities. Mutations in the COL4A5 gene cause X-linked ATS. Mutations in COL4A4 and COL4A3 genes have been reported in both autosomal recessive and autosomal dominant ATS. The conventional mutation screening, performed by DHPLC and/or Sanger sequencing, is time-consuming and has relatively high costs because of the absence of hot spots and to the high number of exons per gene: 51 (COL4 ...[more]