机译:Electroretinographic abnormalities in Alport syndrome with a novel COL4A5 truncated variant (p.Try20GlyfsTer19)
Jikei Univ;
Jikei Univ;
Alport syndrome; Novel variant; Electroretinographic findings; B-WAVE; BIPOLAR NEURON; IV COLLAGEN; RETINOPATHY; MUTATIONS; IDENTIFICATION; FEATURES; MODEL; GENE;