(Q57258198)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11465545%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

title

Three novel mutations causing a truncated protein within the RP2 gene in Italian families with X-linked retinitis pigmentosa (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11465545%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1 reference

3

1 reference

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9 November 2019

Bruno Dallapiccola

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11465545%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Giuseppe Novelli

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11465545%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Alessandro De Luca

1 reference

ORCID Public Data File 2021

author name string

A De Luca

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11465545%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

I Torrente

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11465545%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

R Danesi

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11465545%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

language of work or name

English

0 references

publication date

1 January 2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11465545%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11465545%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

volume

432

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11465545%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

issue

3-4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11465545%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

page(s)

79-82

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11465545%20AND%20SRC:MED&resulttype=core&format=json

X-linked retinitis pigmentosa

9 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5726%2800%2900007-8

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

https://api.crossref.org/works/10.1016%2FS1383-5726%2800%2900007-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5726%2800%2900007-8

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

https://api.crossref.org/works/10.1016%2FS1383-5726%2800%2900007-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5726%2800%2900007-8

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

https://api.crossref.org/works/10.1016%2FS1383-5726%2800%2900007-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5726%2800%2900007-8

7 January 2021

Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5726%2800%2900007-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5726%2800%2900007-8

7 January 2021

Pathway leading to correctly folded beta-tubulin

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5726%2800%2900007-8

7 January 2021

Mutations in the N-terminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membrane

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5726%2800%2900007-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5726%2800%2900007-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5726%2800%2900007-8

7 January 2021

Genotype-phenotype correlation in X-linked retinitis pigmentosa 2 (RP2)

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5726%2800%2900007-8

7 January 2021

Novel frameshift mutations in the RP2 gene and polymorphic variants

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5726%2800%2900007-8

7 January 2021

Electroretinographic diagnosis in families with X-linked retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5726%2800%2900007-8

7 January 2021

Interocular asymmetry of visual function in heterozygotes of X-linked retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5726%2800%2900007-8

7 January 2021

Identification of a gene from Xp21 with similarity to the tctex-1 gene of the murine t complex

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5726%2800%2900007-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5726%2800%2900007-8

7 January 2021

10.1016/S1383-5726(00)00007-8

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11465545%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1 reference