Multimodal imaging and genetic characteristics of Chinese patients with USH2A-associated nonsyndromic retinitis pigmentosa.

Chong ChenQiao SunMingmin GuTianwei QianDawei LuoKun Liu Xun XuSuqin Yu

Published in: Molecular genetics & genomic medicine (2020)

Our data further confirm that USH2A protein plays a pivotal role in the maintenance of photoreceptors and expand the spectrum of USH2A mutations that are associated with nonsyndromic RP in Chinese patients.

Keyphrases

high resolution
electronic health record
pain management
genome wide
protein protein
copy number
amino acid
small molecule
mass spectrometry