ScienceGate
Advanced Search
Author Search
Journal Finder
Blog
Sign in / Sign up
ScienceGate
Search
Author Search
Journal Finder
Blog
Sign in / Sign up
Novel mutation at the initiation codon in the Norrie disease gene in two Japanese families
Human Genetics
◽
10.1007/bf00225085
◽
1995
◽
Vol 95
(1)
◽
Cited By ~ 13
Author(s):
Yasushi Isashiki
◽
Norio Ohba
◽
Toyoko Yanagita
◽
Naoko Hokita
◽
Norihito Doi
◽
...
Keyword(s):
Disease Gene
◽
Novel Mutation
◽
Initiation Codon
◽
Norrie Disease
Download Full-text
Related Documents
Cited By
References
A novel mutation in the Norrie disease gene predicted to disrupt the cystine knot growth factor motif
Human Molecular Genetics
◽
10.1093/hmg/4.11.2179
◽
1995
◽
Vol 4
(11)
◽
pp. 2179-2180
◽
Cited By ~ 3
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
Download Full-text
A novel mutation in the Norrie disease gene
Journal of American Association for Pediatric Ophthalmology and Strabismus
◽
10.1067/mpa.2000.103874
◽
2000
◽
Vol 4
(2)
◽
pp. 125-126
◽
Cited By ~ 3
Author(s):
Sandra Ott
◽
Reshma J. Patel
◽
Binoy Appukuttan
◽
Xiaoguang Wang
◽
J.Timothy Stout
Keyword(s):
Disease Gene
◽
Novel Mutation
◽
Norrie Disease
Download Full-text
Correlation of Ophthalmic Examination with Carrier Status in Females Potentially Harboring a Severe Norrie Disease Gene Mutation
Ophthalmology
◽
10.1016/j.ophtha.2007.04.064
◽
2008
◽
Vol 115
(4)
◽
pp. 730-733
◽
Cited By ~ 1
Author(s):
Arif O. Khan
◽
Mohammed A. Aldahmesh
◽
Brian Meyer
Keyword(s):
Gene Mutation
◽
Disease Gene
◽
Carrier Status
◽
Ophthalmic Examination
◽
Norrie Disease
Download Full-text
The Norrie disease gene maps to a 150 kb region on chromosome Xp11.3
Human Molecular Genetics
◽
10.1093/hmg/1.2.83
◽
1992
◽
Vol 1
(2)
◽
pp. 83-89
◽
Cited By ~ 29
Author(s):
K.B. Sims
◽
R.V. Lebo
◽
G. Benson
◽
C. Shalish
◽
D. Schuback
◽
...
Keyword(s):
Disease Gene
◽
Norrie Disease
◽
Gene Maps
Download Full-text
Protein 4.1 Lille, a novel mutation in the downstream initiation codon of protein 4.1 gene associated with heterozygous 4,1(−) hereditary elliptocytosis
Human Mutation
◽
10.1002/humu.1380050412
◽
1995
◽
Vol 5
(4)
◽
pp. 339-340
◽
Cited By ~ 7
Author(s):
M. Garbarz
◽
I. Devaux
◽
O. Bournier
◽
B. Grandchamp
◽
D. Dhermy
Keyword(s):
Novel Mutation
◽
Initiation Codon
◽
Protein 4.1
◽
Hereditary Elliptocytosis
Download Full-text
A C597→A polymorphism in the Norrie disease gene is associated with advanced retinopathy of prematurity in premature Kuwaiti infants
Journal of Biomedical Science
◽
10.1007/bf02256593
◽
2002
◽
Vol 9
(4)
◽
pp. 365-370
Author(s):
M. Z. Haider
◽
L. V. Devarajan
◽
M. Al-Essa
◽
H. Kumar
Keyword(s):
Retinopathy Of Prematurity
◽
Disease Gene
◽
Norrie Disease
Download Full-text
Missense mutation (Arg121Trp) in the norrie disease gene associated with X-linked exudative vitreoretinopathy
Human Mutation
◽
10.1002/humu.1380060312
◽
1995
◽
Vol 6
(3)
◽
pp. 257-259
◽
Cited By ~ 21
Author(s):
Sigrid Fuchs
◽
Ulrich Kellner
◽
Heike Wedemann
◽
Andreas Gal
Keyword(s):
Missense Mutation
◽
Disease Gene
◽
Norrie Disease
Download Full-text
Novel Mutation of the Translation Initiation Codon of the α1-Globin Gene (ATG>AAG orHBA1:c.2T>A)
Hemoglobin
◽
10.1080/03630269.2016.1236028
◽
2016
◽
Vol 40
(5)
◽
pp. 369-370
◽
Cited By ~ 1
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
Download Full-text
Phenotypic heterogeneity associated with a novel mutation (Gly112Glu) in the Norrie disease protein
Eye
◽
10.1038/sj.eye.6701840
◽
2005
◽
Vol 20
(2)
◽
pp. 234-241
◽
Cited By ~ 14
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
Download Full-text
A mutation in the Norrie disease gene (NDP) associated with familial exudative vitreoretinopathy
Eye
◽
10.1038/eye.2011.226
◽
2011
◽
Vol 25
(12)
◽
pp. 1658-1658
◽
Cited By ~ 1
Author(s):
S Chamney
◽
E McLoone
◽
C E Willoughby
Keyword(s):
Disease Gene
◽
Norrie Disease
◽
Familial Exudative Vitreoretinopathy
Download Full-text
Sign in / Sign up
Close
Export Citation Format
Close
Share Document
Close