Associated Papers
NanoLuc reporters identify COL4A5 nonsense mutations susceptible to drug-induced stop codon readthrough.
Omachi K et al.
Iscience, 2022
Linkage analysis and a novel COL4A5 mutation in a large Turkish family with Alport syndrome.
Tug E et al.
Genetic Counseling (geneva, Switzerland), 2011
Bull's eye and pigment maculopathy are further retinal manifestations of an abnormal Bruch's membrane in Alport syndrome.
Savige J et al.
Ophthalmic Genetics, 0
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