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Article

Improved genetic counseling in Alport syndrome by new variants of COL4A5 gene.

Nephrology (Carlton, Vic.) - 1 Jul 2015

Fernandez-Rosado Francisco, Campos Ana, Alvarez-Cubero Maria Jesus, Ruiz Ana, Entrala-Bernal Carmen

Abstract excerpt

There are current requirements of using genetic databases for offering a better genetic assistance to patients of some syndromes, especially those with X-linked heredity patterns (like Alport Syndrome) for the high probability of having descendants affected by the disease. We describe the first reported case of COL4A5 gene missense c.1499 G>T mutation in a 16-year-old girl confirmed to be affected by Alport...

Topics

Adolescent
Collagen Type IV
Female
Genetic Counseling
Genetic Variation
Humans
Nephritis, Hereditary

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 26063487
DOI: 10.1111/nep.12486

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