Congenital stationary night blindness associated with mutations in GRM6 encoding glutamate receptor MGluR6

被引：27

作者：

O'Connor, E

Allen, LE

Bradshaw, K

Boylan, J

Moore, AT

Trump, D

机构：

[1] Univ Manchester, Fac Med & Human Sci, Ctr Mol Med, Manchester, Lancs, England

[2] Univ Manchester, Sch Med, Div Human Dev, Acad Unit Med Genet, Manchester, Lancs, England

[3] Addenbrookes Hosp Trust, Dept Ophthalmol, Cambridge, England

[4] Inst Ophthalmol, London, England

[5] Moorfields Eye Hosp, London, England

来源：

BRITISH JOURNAL OF OPHTHALMOLOGY | 2006年 / 90卷 / 05期

基金：

英国医学研究理事会;

关键词：

D O I：

10.1136/bjo.2005.086678

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

引用

页码：653 / 654

页数：4

共 11 条

[1]

al-Jandal N, 1999, HUM MUTAT, V13, P75, DOI 10.1002/(SICI)1098-1004(1999)13:1<75::AID-HUMU9>3.0.CO

[2]

2-4

[3] Genotype-phenotype correlation in British families with X linked congenital stationary night blindness [J].

Allen, LE ;

Zito, I ;

Bradshaw, K ;

Patel, RJ ;

Bird, AC ;

Fitzke, F ;

Yates, JR ;

Trump, D ;

Hardcastle, AJ ;

Moore, AT .

BRITISH JOURNAL OF OPHTHALMOLOGY, 2003, 87 (11) :1413-1420

[4] Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6 [J].

Dryja, TP ;

McGee, TL ;

Berson, EL ;

Fishman, GA ;

Sandberg, MA ;

Alexander, KR ;

Derlacki, DJ ;

Rajagopalan, AS .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2005, 102 (13) :4884-4889

[5] HETEROZYGOUS MISSENSE MUTATION IN THE RHODOPSIN GENE AS A CAUSE OF CONGENITAL STATIONARY NIGHT BLINDNESS [J].

DRYJA, TP ;

BERSON, EL ;

RAO, VR ;

OPRIAN, DD .

NATURE GENETICS, 1993, 4 (03) :280-283

[6] Phenotypic expression of the complete type of X-linked congenital stationary night blindness in patients with different mutations in the NYX gene [J].

Jacobi, FK ;

Andréasson, S ;

Langrova, H ;

Meindl, A ;

Zrenner, E ;

Apfelstedt-Sylla, E ;

Pusch, CM .

GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY, 2002, 240 (10) :822-828

[7]

NAKAJIMA Y, 1993, J BIOL CHEM, V268, P11868

[8] FUNCTIONS OF THE ON AND OFF CHANNELS OF THE VISUAL-SYSTEM [J].

SCHILLER, PH ;

SANDELL, JH ;

MAUNSELL, JHR .

NATURE, 1986, 322 (6082) :824-825

[9] DARK-LIGHT - MODEL FOR NIGHTBLINDNESS FROM THE HUMAN RHODOPSIN GLY-90-]ASP MUTATION [J].

SIEVING, PA ;

RICHARDS, JE ;

NAARENDORP, F ;

BINGHAM, EL ;

SCOTT, K ;

ALPERN, M .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1995, 92 (03) :880-884

[10] 2-AMINO-4-PHOSPHONOBUTYRIC ACID - A NEW PHARMACOLOGICAL TOOL FOR RETINA RESEARCH [J].

SLAUGHTER, MM ;

MILLER, RF .

SCIENCE, 1981, 211 (4478) :182-185

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