Clinical and genetic features in autosomal recessive and X-linked Alport syndrome

by Wang, Yanyan, Sivakumar, Vanessa, Mohammad, Mardhiah, Colville, Deb, Storey, Helen, Flinter, Frances, Dagher, Hayat, Savige, Judy
Published 2014

A female with X-linked Alport syndrome and compound heterozygous COL4A5 mutations

by Mohammad, Mardhiah, Nanra, Ranjit, Colville, Deb, Trevillian, Paul, Wang, Yanyan, Storey, Helen, Flinter, Frances, Savige, Judy
Published 2014

The chemical chaperone, PBA, reduces ER stress and autophagy and increases collagen IV a5 expression in cultured fibroblasts from men With X-linked alport syndrome and missense mut...

by Wang, Dongmao, Mohammad, Mardhiah, Wang, Yanyan, Tan, Rachel, Murray, Lydia S., Ricardo, Sharon, Dagher, Hayat, Agtmael, Tom van, Savige, Judy
Published 2017