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COL4A3/COL4A4 Mutations and Features in Individuals with Autosomal Recessive Alport Syndrome

Alport syndrome is an inherited disease characterized by hematuria, progressive renal failure, hearing loss, and ocular abnormalities. Autosomal recessive Alport syndrome is suspected in consanguineous families and when female patients develop renal failure. Fifteen percent of patients with Alport s...

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Detalhes bibliográficos
Main Authors: Storey, Helen, Savige, Judy, Sivakumar, Vanessa, Abbs, Stephen, Flinter, Frances A.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Nephrology 2013
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3839543/
https://ncbi.nlm.nih.gov/pubmed/24052634
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2012100985
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