Novel mutation at the initiation codon in the Norrie disease gene in two Japanese families

1995 ◽  
Vol 95 (1) ◽  
Author(s):  
Yasushi Isashiki ◽  
Norio Ohba ◽  
Toyoko Yanagita ◽  
Naoko Hokita ◽  
Norihito Doi ◽  
...  
Keyword(s):  
Disease Gene ◽  
Novel Mutation ◽  
Initiation Codon ◽  
Norrie Disease

A novel mutation in the Norrie disease gene predicted to disrupt the cystine knot growth factor motif

1995 ◽  
Vol 4 (11) ◽  
pp. 2179-2180 ◽  
Author(s):  
P. Strasberg ◽  
H. A. Liede ◽  
T. Stein ◽  
I. Warren ◽  
J. Sutherland ◽  
...  
Keyword(s):  
Growth Factor ◽  
Disease Gene ◽  
Novel Mutation ◽  
Norrie Disease ◽  
Cystine Knot

A novel mutation in the Norrie disease gene

2000 ◽  
Vol 4 (2) ◽  
pp. 125-126 ◽  
Author(s):  
Sandra Ott ◽  
Reshma J. Patel ◽  
Binoy Appukuttan ◽  
Xiaoguang Wang ◽  
J.Timothy Stout
Keyword(s):  
Disease Gene ◽  
Novel Mutation ◽  
Norrie Disease

The Norrie disease gene maps to a 150 kb region on chromosome Xp11.3

1992 ◽  
Vol 1 (2) ◽  
pp. 83-89 ◽  
Author(s):  
K.B. Sims ◽  
R.V. Lebo ◽  
G. Benson ◽  
C. Shalish ◽  
D. Schuback ◽  
...  
Keyword(s):  
Disease Gene ◽  
Norrie Disease ◽  
Gene Maps

Missense mutation (Arg121Trp) in the norrie disease gene associated with X-linked exudative vitreoretinopathy

1995 ◽  
Vol 6 (3) ◽  
pp. 257-259 ◽  
Author(s):  
Sigrid Fuchs ◽  
Ulrich Kellner ◽  
Heike Wedemann ◽  
Andreas Gal
Keyword(s):  
Missense Mutation ◽  
Disease Gene ◽  
Norrie Disease

Novel Mutation of the Translation Initiation Codon of the α1-Globin Gene (ATG>AAG orHBA1:c.2T>A)

Hemoglobin ◽  
2016 ◽  
Vol 40 (5) ◽  
pp. 369-370 ◽  
Author(s):  
John S. Waye ◽  
Barry Eng ◽  
Meredith Hanna ◽  
Betty-Ann Hohenadel ◽  
Lisa Nakamura ◽  
...  
Keyword(s):  
Translation Initiation ◽  
Novel Mutation ◽  
Globin Gene ◽  
Initiation Codon ◽  
Translation Initiation Codon

scholarly journals Phenotypic heterogeneity associated with a novel mutation (Gly112Glu) in the Norrie disease protein

Eye ◽  
2005 ◽  
Vol 20 (2) ◽  
pp. 234-241 ◽  
Author(s):  
R C Allen ◽  
S R Russell ◽  
L M Streb ◽  
A Alsheikheh ◽  
E M Stone
Keyword(s):  
Novel Mutation ◽  
Phenotypic Heterogeneity ◽  
Norrie Disease ◽  
Disease Protein

scholarly journals A mutation in the Norrie disease gene (NDP) associated with familial exudative vitreoretinopathy

Eye ◽  
2011 ◽  
Vol 25 (12) ◽  
pp. 1658-1658 ◽  
Author(s):  
S Chamney ◽  
E McLoone ◽  
C E Willoughby
Keyword(s):  
Disease Gene ◽  
Norrie Disease ◽  
Familial Exudative Vitreoretinopathy
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