Novel USH2A compound heterozygous mutations cause RP/USH2 in a Chinese family.
Liu
Xiaowen
X
The Union Hospital, Huazhong University of Science and Technology, Wuhan, Hubei, P.R. China.
Tang
Zhaohui
Z
Li
Chang
C
Yang
Kangjuan
K
Gan
Guanqi
G
Zhang
Zibo
Z
Liu
Jingyu
J
Jiang
Fagang
F
Wang
Qing
Q
Liu
Mugen
M
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
D016326:Extracellular Matrix Proteins; C112735:USH2A protein, human