title: Novel USH2A compound heterozygous mutations cause RP/USH2 in a Chinese family.
authors.affiliation: The Union Hospital, Huazhong University of Science and Technology, Wuhan, Hubei, P.R. China.
authors.forename: Xiaowen
authors.initials: X
authors.lastname: Liu
authors.forename: Zhaohui
authors.initials: Z
authors.lastname: Tang
authors.forename: Chang
authors.initials: C
authors.lastname: Li
authors.forename: Kangjuan
authors.initials: K
authors.lastname: Yang
authors.forename: Guanqi
authors.initials: G
authors.lastname: Gan
authors.forename: Zibo
authors.initials: Z
authors.lastname: Zhang
authors.forename: Jingyu
authors.initials: J
authors.lastname: Liu
authors.forename: Fagang
authors.initials: F
authors.lastname: Jiang
authors.forename: Qing
authors.initials: Q
authors.lastname: Wang
authors.forename: Mugen
authors.initials: M
authors.lastname: Liu
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics*; D001299:Audiometry; D001483:Base Sequence; D004252:DNA Mutational Analysis; D016326:Extracellular Matrix Proteins / Q000737:chemistry / Q000235:genetics*; D005190:Family; D005260:Female; D005654:Fundus Oculi; D008040:Genetic Linkage; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000235:genetics*; D052245:Usher Syndromes / Q000235:genetics*; D055815:Young Adult
chemical_list: D016326:Extracellular Matrix Proteins; C112735:USH2A protein, human