scholarly journals A Novel Frameshift Mutation of theUSH2AGene in a Korean Patient with Usher Syndrome Type II

2013 ◽  
Vol 6 (1) ◽  
pp. 41 ◽  
Author(s):  
Sung Hyun Boo ◽  
Min-Jung Song ◽  
Hee-Jin Kim ◽  
Yang-Sun Cho ◽  
Hosuk Chu ◽  
...  
Keyword(s):  
Frameshift Mutation ◽  
Usher Syndrome ◽  
Syndrome Type ◽  
Type Ii ◽  
Korean Patient ◽  
Usher Syndrome Type

Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa

2004 ◽  
Vol 79 (2) ◽  
pp. 167-173 ◽  
Author(s):  
Babak Jian Seyedahmadi ◽  
Carlo Rivolta ◽  
Julia A. Keene ◽  
Eliot L. Berson ◽  
Thaddeus P. Dryja
Keyword(s):  
Retinitis Pigmentosa ◽  
Usher Syndrome ◽  
Syndrome Type ◽  
Type Ii ◽  
Usher Syndrome Type

scholarly journals Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II

2009 ◽  
Vol 54 (12) ◽  
pp. 732-738 ◽  
Author(s):  
Denise Yan ◽  
Xiaomei Ouyang ◽  
D Michael Patterson ◽  
Li Lin Du ◽  
Samuel G Jacobson ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Usher Syndrome ◽  
Syndrome Type ◽  
Type Ii ◽  
Usher Syndrome Type

GIANT RETINAL TEAR IN USHER SYNDROME TYPE II

Retina ◽  
1998 ◽  
Vol 18 (2) ◽  
pp. 177 ◽  
Author(s):  
MARK T. CAHILL ◽  
PETER J. BARRY ◽  
PAUL F. KENNA
Keyword(s):  
Usher Syndrome ◽  
Syndrome Type ◽  
Type Ii ◽  
Retinal Tear ◽  
Giant Retinal Tear ◽  
Usher Syndrome Type

Spectrum of Mutations in USH2A in British Patients with Usher Syndrome Type II

2001 ◽  
Vol 72 (5) ◽  
pp. 503-509 ◽  
Author(s):  
Bart P Leroy ◽  
José A Aragon-Martin ◽  
Michael D Weston ◽  
David A.R Bessant ◽  
Catherine Willis ◽  
...  
Keyword(s):  
Usher Syndrome ◽  
Syndrome Type ◽  
Type Ii ◽  
Usher Syndrome Type

scholarly journals Pseudodominance in a Czech family with Usher syndrome type II

2016 ◽  
Vol 94 ◽  
Author(s):  
B. Kousal ◽  
L. Dudakova ◽  
P. Skalicka ◽  
K. Bujakowska ◽  
P. Liskova
Keyword(s):  
Usher Syndrome ◽  
Syndrome Type ◽  
Type Ii ◽  
Usher Syndrome Type

A novel mutation of the USH2C (GPR98) gene in an Iranian family with Usher syndrome type II

2014 ◽  
Vol 93 (3) ◽  
pp. 837-841 ◽  
Author(s):  
KIMIA KAHRIZI ◽  
NILOOFAR BAZAZZADEGAN ◽  
LEILA JAMALI ◽  
NOOSHIN NIKZAT ◽  
ATIE KASHEF ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Usher Syndrome ◽  
Syndrome Type ◽  
Type Ii ◽  
Iranian Family ◽  
Usher Syndrome Type
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