(Q34334012)

1 August 2017

Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy (English)

1 reference

1 August 2017

photoreceptor protein

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1

Andreas R Janecke

1 reference

1 August 2017

12

Peter Nürnberg

1 reference

1 August 2017

9

Franz Rüschendorf

1 reference

1 August 2017

4

Christian Becker

1 reference

1 August 2017

5

Christian A Hübner

1 reference

1 August 2017

11

Bernd Wissinger

1 reference

1 August 2017

Debra A Thompson

2

1 reference

1 August 2017

Gerd Utermann

3

1 reference

1 August 2017

Eduard Schmid

6

1 reference

1 August 2017

Christina L McHenry

7

1 reference

1 August 2017

Anita R Nair

8

1 reference

1 August 2017

John Heckenlively

10

1 reference

1 August 2017

Andreas Gal

13

1 reference

1 August 2017

language of work or name

English

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publication date

18 July 2004

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1 August 2017

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1 August 2017

36

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1 August 2017

850-854

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1 August 2017

8

1 reference

https://scigraph.springernature.com/pub.10.1038/ng1394

1 August 2017

0 references

cites work

Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns.

1 reference

Large-scale genotyping of complex DNA.

21 January 2018

1 reference

Dual-substrate specificity short chain retinol dehydrogenases from the vertebrate retina

21 January 2018

1 reference

Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus

21 January 2018

1 reference

A novel locus for Leber congenital amaurosis on chromosome 14q24.

21 January 2018

1 reference

Confronting complexity: the interlink of phototransduction and retinoid metabolism in the vertebrate retina

21 January 2018

1 reference

Vitamin A metabolism in the retinal pigment epithelium: genes, mutations, and diseases

21 January 2018

1 reference

Spontaneous activity of opsin apoprotein is a cause of Leber congenital amaurosis

21 January 2018

1 reference

Molecular characterization of a novel short-chain dehydrogenase/reductase that reduces all-trans-retinal

21 January 2018

1 reference

Identification and characterization of all-trans-retinol dehydrogenase from photoreceptor outer segments, the visual cycle enzyme that reduces all-trans-retinal to all-trans-retinol

21 January 2018

1 reference

PedCheck: a program for identification of genotype incompatibilities in linkage analysis

21 January 2018

1 reference

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

21 January 2018

1 reference

Parametric and nonparametric multipoint linkage analysis with imprinting and two-locus-trait models: application to mite sensitization

21 January 2018

1 reference

GRR: graphical representation of relationship errors

21 January 2018

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

High-performance liquid chromatography analysis of visual cycle retinoids

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NG1394

1 reference

1 August 2017

1 reference