(Q28272966)

1

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T Solans

2

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D Grinberg

3

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S Balcells

4

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L Vilageliu

5

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M Bayés

6

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P Chivelet

7

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C Besmond

8

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M Goossens

9

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R González-Duarte

10

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M Baiget

Missense rhodopsin mutation in a family with recessive RP

11

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language of work or name

English

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publication date

January 1996

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published in

Human Genetics

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volume

97

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issue

1

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page(s)

35-8

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cites work

1 reference

12 December 2020

Evidence against involvement of recoverin in autosomal recessive retinitis pigmentosa in 42 Spanish families

1 reference

12 December 2020

Strategies for multilocus linkage analysis in humans

1 reference

12 December 2020

PCR of a VNTR linked to mucopolysaccharidosis type I and Huntington disease

1 reference

12 December 2020

cGMP binding sites on photoreceptor phosphodiesterase: role in feedback regulation of visual transduction.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Retinitis pigmentosa in Spain. The Spanish Multicentric and Multidisciplinary Group for Research into Retinitis Pigmentosa

1 reference

12 December 2020

A dinucleotide repeat polymorphism at the D4S127 locus

1 reference

12 December 2020

(CA)n-dinucleotide repeat at the PDEB locus in 4p16.3

1 reference

12 December 2020

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

1 reference

12 December 2020

A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa

1 reference

12 December 2020

Homozygous tandem duplication within the gene encoding the beta-subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa.

1 reference

12 December 2020

The search for mutations in the gene for the beta subunit of the cGMP phosphodiesterase (PDEB) in patients with autosomal recessive retinitis pigmentosa

1 reference

12 December 2020

Retinal degeneration in the rd mouse is caused by a defect in the beta subunit of rod cGMP-phosphodiesterase

1 reference

12 December 2020