[Proteins structure changes of COL4A5 gene point mutations and structure-phenotype relations in Alport syndrome].

Abstract excerpt

OBJECTIVE: Alport syndrome (AS) is a progressive hereditary nephritis presented with hematuria and renal failure, frequently associated with sensorineural deafness and ocular lesions. So far, more than 300 gene mutations in AS have been identified which provides a better way to analyze the association between genotype and phenotype. It is hard to understand all the phenotype according to the gene mutations,...

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