Molecular genetics of Alport syndrome.

doi:10.1038/ki.1993.8

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Article

Molecular genetics of Alport syndrome.

Kidney international - 1 Jan 1993

Tryggvason K, Zhou J, Hostikka S L, Shows T B

Abstract excerpt

Alport syndrome is a progressive hereditary kidney disease characterized by hematuria, sensorineural hearing loss and ocular lesions with structural defects in the glomerular basement membrane (GBM). The gene frequency has been estimated to be 1:5000. The disease is primarily X chromosome-linked,...

Topics

Chromosome Mapping
Collagen
Genetic Linkage
Humans
Molecular Biology
Mutation
Nephritis, Hereditary
Phenotype
X Chromosome

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