(Q24540158)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10053026%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

title

Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa (English)

1 reference

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11 November 2019

1 reference

7

1 reference

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11 November 2019

Samuel G. Jacobson

8

1 reference

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11 November 2019

Anand Swaroop

10

1 reference

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11 November 2019

author name string

A J Mears

1

1 reference

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11 November 2019

L Gieser

2

1 reference

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11 November 2019

D Yan

3

1 reference

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11 November 2019

C Chen

4

1 reference

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11 November 2019

S Fahrner

5

1 reference

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11 November 2019

S Hiriyanna

6

1 reference

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11 November 2019

P A Sieving

9

1 reference

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11 November 2019

language of work or name

English

0 references

publication date

1 March 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10053026%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

11 November 2019

published in

1 reference

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11 November 2019

volume

64

1 reference

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11 November 2019

issue

3

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11 November 2019

page(s)

897-900

1 reference

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Multipoint linkage analysis and heterogeneity testing in 20 X-linked retinitis pigmentosa families.

11 November 2019

cites work

1 reference

7 January 2021

Pathway leading to correctly folded beta-tubulin

1 reference

7 January 2021

A practical diagnostic test for choroideremia

1 reference

7 January 2021

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

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

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

1 reference

7 January 2021

Biochemical characterization and subcellular localization of the mouse retinitis pigmentosa GTPase regulator (mRpgr)

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

A novel locus (RP24) for X-linked retinitis pigmentosa maps to Xq26-27.

1 reference

7 January 2021

Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: paucity of mutations in the coding region but splice defects in two families

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

1 reference

7 January 2021

Identifiers

DOI

10.1086/302298

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10053026%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

1 reference

2 references

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11 November 2019

PubMed publication ID

10053026

2 references