[Alport's syndrome: new findings].

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 codifie...

Topics

Collagen
Genetic Counseling
Humans
Mutation
Nephritis, Hereditary

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