Molecular testing for adult type Alport syndrome

BACKGROUND: Alport syndrome (AS) is a progressive renal disease with cochlear and ocular involvement. The majority of AS cases are X-linked (XLAS) and due to mutations in the COL4A5 gene. Although the disease may appear early in life and progress to end stage renal disease (ESRD) in young adults, in...

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Detalles Bibliográficos
Autores principales: Pont-Kingdon, Genevieve, Sumner, Kelli, Gedge, Friederike, Miller, Chris, Denison, Joyce, Gregory, Martin, Lyon, Elaine
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2009
Materias:
Technical Advance
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2780398/
https://www.ncbi.nlm.nih.gov/pubmed/19919694
http://dx.doi.org/10.1186/1471-2369-10-38

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2780398/
https://www.ncbi.nlm.nih.gov/pubmed/19919694
http://dx.doi.org/10.1186/1471-2369-10-38

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