(Q35717660)

9 August 2017

title

Whole-exome sequencing reveals a novel CHM gene mutation in a family with choroideremia initially diagnosed as retinitis pigmentosa (English)

1 reference

9 August 2017

Hui Guo

1

1 reference

9 August 2017

Jisheng Li

2

1 reference

9 August 2017

Fei Gao

3

1 reference

9 August 2017

Jiangxia Li

4

1 reference

9 August 2017

Xinyi Wu

5

1 reference

9 August 2017

Qiji Liu

6

1 reference

9 August 2017

language of work or name

1 reference

28 July 2015

1 reference

9 August 2017

1 reference

9 August 2017

volume

15

1 reference

9 August 2017

page(s)

85

1 reference

Creative Commons Attribution 4.0 International

9 August 2017

copyright license

start time

28 July 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

exact match

https://scigraph.springernature.com/pub.10.1186/s12886-015-0081-4

0 references

cites work

Molecular genetic diagnostic techniques in choroideremia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4517409

Stem cells for investigation and treatment of inherited retinal disease

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4517409

Choroideremia: a review of general findings and pathogenesis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4517409

Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4517409

The functional effect of pathogenic mutations in Rab escort protein 1.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4517409

An epidemiological approach for the estimation of disease onset in Central Europe in central and peripheral monogenic retinal dystrophies

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4517409

A novel mutation (967-970+2)delAAAGGT in the choroideremia gene found in a Japanese family and related clinical findings

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4517409

Iris pigment epithelial cell transplantation for degenerative retinal diseases.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4517409

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4517409

Independent degeneration of photoreceptors and retinal pigment epithelium in conditional knockout mouse models of choroideremia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4517409

Choroideremia gene testing

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4517409

Retrospective, longitudinal, and cross sectional study of visual acuity impairment in choroideraemia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4517409

A practical diagnostic test for choroideremia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4517409

Molecular basis of choroideremia (CHM): mutations involving the Rab escort protein-1 (REP-1) gene

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4517409

Retinal degeneration in choroideremia: deficiency of rab geranylgeranyl transferase

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4517409

Deficient geranylgeranylation of Ram/Rab27 in choroideremia.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4517409

Cloning of a gene that is rearranged in patients with choroideraemia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4517409

Exome sequencing reveals CHM mutations in six families with atypical choroideremia initially diagnosed as retinitis pigmentosa

12 July 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26216097

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Novel types of mutation in the choroideremia (CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26216097

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26216097

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/S12886-015-0081-4

1 reference

Dimensions Publication ID

9 August 2017

0 references

1 reference

9 August 2017

1 reference