A mutation (2314delG) in the Usher syndrome type IIA gene: high prevalence and phenotypic variation.
Liu
X Z
XZ
Hope
C
C
Liang
C Y
CY
Zou
J M
JM
Xu
L R
LR
Cole
T
T
Mueller
R F
RF
Bundey
S
S
Nance
W
W
Steel
K P
KP
Brown
S D
SD
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D002681:China; D003638:Deafness / Q000453:epidemiology / Q000235:genetics*; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D015995:Prevalence; D012174:Retinitis Pigmentosa / Q000453:epidemiology / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics; D013577:Syndrome; D006113:United Kingdom
D016326:Extracellular Matrix Proteins; C112735:USH2A protein, human