(Q24540229)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10090907%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

title

Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study (English)

1 reference

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12 November 2019

1 reference

1

1 reference

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12 November 2019

author name string

D L Thiselton

2

1 reference

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12 November 2019

L Van Maldergem

3

1 reference

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12 November 2019

B K Saha

4

1 reference

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12 November 2019

M Jay

5

1 reference

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12 November 2019

C Plant

6

1 reference

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12 November 2019

R Taylor

7

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12 November 2019

A C Bird

8

1 reference

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12 November 2019

S Bhattacharya

9

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12 November 2019

language of work or name

English

0 references

publication date

1 April 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10090907%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

12 November 2019

published in

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12 November 2019

volume

64

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12 November 2019

issue

4

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12 November 2019

page(s)

1210-1215

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Pathway leading to correctly folded beta-tubulin

12 November 2019

cites work

1 reference

7 January 2021

Positional cloning of the gene for X-linked retinitis pigmentosa 2

1 reference

7 January 2021

Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28

1 reference

7 January 2021

A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)

1 reference

7 January 2021

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

1 reference

7 January 2021

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

1 reference

7 January 2021

Tubulin subunits exist in an activated conformational state generated and maintained by protein cofactors

1 reference

7 January 2021

Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa

1 reference

7 January 2021

Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1

1 reference

7 January 2021

Mapping the RP2 locus for X-linked retinitis pigmentosa on proximal Xp: a genetically defined 5-cM critical region and exclusion of candidate genes by physical mapping

1 reference

7 January 2021

X-linked retinitis pigmentosa

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7 January 2021

Identifiers

DOI

10.1086/302325

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10090907%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

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12 November 2019

PubMed publication ID

10090907

1 reference