(Q28247337)

2

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W Baehr

3

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E Schwinger

4

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T Rosenberg

Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness

5

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language of work or name

English

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publication date

May 1994

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published in

Nature Genetics

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volume

7

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issue

1

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page(s)

64-8

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cites work

1 reference

7 January 2021

Gene for autosomal dominant congenital stationary night blindness maps to the same region as the gene for the beta-subunit of the rod photoreceptor cGMP phosphodiesterase (PDEB) in chromosome 4p16.3.

1 reference

7 January 2021

Chromosome mapping of the rod photoreceptor cGMP phosphodiesterase beta-subunit gene in mouse and human: tight linkage to the Huntington disease region (4p16.3)

1 reference

7 January 2021

Genomic organization and complete sequence of the human gene encoding the beta-subunit of the cGMP phosphodiesterase and its localisation to 4p 16.3

1 reference

7 January 2021

cGMP phosphodiesterase of retinal rods is regulated by two inhibitory subunits

1 reference

7 January 2021

Interactions of a G-protein with its effector: transducin and cGMP phosphodiesterase in retinal rods

1 reference

7 January 2021

Identification of a nonsense mutation in the rod photoreceptor cGMP phosphodiesterase beta-subunit gene of the rd mouse

1 reference

7 January 2021

Irish setter dogs affected with rod/cone dysplasia contain a nonsense mutation in the rod cGMP phosphodiesterase beta-subunit gene

1 reference

7 January 2021

Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa

1 reference

7 January 2021

The human rod photoreceptor cGMP phosphodiesterase β-subunit

1 reference

7 January 2021

Autosomal dominant stationary night-blindness A large family rediscovered

1 reference

7 January 2021

Exclusion of DNA changes in the beta-subunit of the c-GMP phosphodiesterase gene as the cause for Huntington's disease

1 reference

7 January 2021

Linkage studies and mutation analysis of the PDEB gene in 23 families with Leber congenital amaurosis

1 reference

7 January 2021

Identification of the gamma-subunit interaction sites in the retinal cyclic-GMP phosphodiesterase beta-subunit

1 reference

7 January 2021

Activation mechanism of retinal rod cyclic GMP phosphodiesterase probed by fluorescein-labeled inhibitory subunit

1 reference

7 January 2021

Cyclic GMP Accumulation Causes Degeneration of Photoreceptor Cells: Simulation of an Inherited Disease

1 reference

7 January 2021

Gene of X-chromosomal congenital stationary night blindness is closely linked to DXS7 on Xp

1 reference

7 January 2021

Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests

1 reference

7 January 2021

[Visual function in essential hemeralopia in the Nougaret family]

1 reference

7 January 2021

Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome)

1 reference

7 January 2021

Identification of a noncatalytic cGMP-binding domain conserved in both the cGMP-stimulated and photoreceptor cyclic nucleotide phosphodiesterases

1 reference

7 January 2021

Bovine cone photoreceptor cGMP phosphodiesterase structure deduced from a cDNA clone

1 reference

7 January 2021

Identification of a conserved domain among cyclic nucleotide phosphodiesterases from diverse species

1 reference

7 January 2021

Molecular characterization of human and bovine rod photoreceptor cGMP phosphodiesterase alpha-subunit and chromosomal localization of the human gene

1 reference

7 January 2021