A novel, homozygous nonsense variant of the CDHR1 gene in a Chinese family causes autosomal recessive retinal dystrophy by NGS ‐based genetic diagnosis

Journal of Cellular and Molecular Medicine, EarlyView.

Source: Journal of Cellular and Molecular Medicine - August 30, 2018 Category: Molecular Biology Authors: Jiewen Fu , Lu Ma , Jingliang Cheng , Lisha Yang , Chunli Wei , Shangyi Fu , Hongbin Lv , Rui Chen , Junjiang Fu Source Type: research