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Article

[Alport's syndrome: new findings].

Boletin medico del Hospital Infantil de Mexico - 1 Aug 1993

García-Torres R, Orozco L

Abstract excerpt

The Alport's syndrome is a disease characterized by a symptomatic triad: nephropathy, hypoacusia and ocular alterations. This syndrome is genetically heterogeneous and results from numerous mutations in COL4A5 gene, whose locus resides on the long arm of the X chromosome (Xq22). This gene codifies for IV collagen alpha 5 chain, which is a fundamental constituent of the glomerular, lens and Corti's organ basal...

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PMID: 8357522

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[Alport's syndrome: new findings].PMID 8357522Read ↗

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Alport syndrome: a unified classification of genetic disorders of collagen IV α345: a position paper of the Alport Syndrome Classification Working Group.Semantic proximity Read ↗

[An absence of the collagen type IV alpha5 chain in Alport Syndrome].Semantic proximity Read ↗

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