Novel heterozygous mutation in col4a4 responsible for alport syndrome in a chinese family

HIGHLIGHTS

• who: . and colleagues from the (CAMS), China University of Messina, Italy have published the paper: Novel heterozygous mutation in COL4A4 responsible for Alport syndrome in a Chinese family, in the Journal: (JOURNAL)
• what: The authors investigated a Chinese family suffering from long-term hematuria and proteinuria. In this study, a COL4A4 novel mutation (p.G285A) was identified in the affected individuals of a Chinese family with a history of AS by WES and Sanger sequencing.

SUMMARY

The authors investigated a Chinese family suffering from long-term hematuria and proteinuria. Chronic kidney . . .

 



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