(Q36969917)

17 August 2017

Mutations in known genes account for 58% of autosomal dominant retinitis pigmentosa (adRP). (English)

1 reference

17 August 2017

1 reference

1

Stephen P Daiger

1 reference

17 August 2017

Lori S Sullivan

2

1 reference

17 August 2017

Anisa I Gire

3

1 reference

17 August 2017

David G Birch

4

1 reference

17 August 2017

John R Heckenlively

5

1 reference

17 August 2017

Sara J Bowne

6

1 reference

17 August 2017

language of work or name

English

0 references

publication date

1 January 2008

1 reference

Advances in Experimental Medicine and Biology

17 August 2017

1 reference

17 August 2017

613

1 reference

17 August 2017

203-209

1 reference

Perspective on genes and mutations causing retinitis pigmentosa

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2582019

Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2582019

Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2582019

SIFT: Predicting amino acid changes that affect protein function

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2582019

Human non-synonymous SNPs: server and survey

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2582019

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2582019

Remapping of the RP15 locus for X-linked cone-rod degeneration to Xp11.4-p21.1, and identification of a de novo insertion in the RPGR exon ORF15

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2582019

Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2582019

Strategies for multilocus linkage analysis in humans

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2582019

Amino acid difference formula to help explain protein evolution

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2582019

Splice site mutation in the peripherin/RDS gene associated with pattern dystrophy of the retina

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2582019

Improved splice site detection in Genie

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2582019

Dominant X linked retinitis pigmentosa is frequently accounted for by truncating mutations in exon ORF15 of the RPGR gene.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2582019

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2582019

A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens

4 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18188946

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/978-0-387-74904-4_23

1 reference

17 August 2017

1 reference

17 August 2017

PubMed publication ID

18188946

1 reference