(Q24647552)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17262014%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

title

Genetic analysis of two Indian families affected with congenital hereditary endothelial dystrophy: two novel mutations in SLC4A11 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17262014%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

0 references

0 references

0 references

Arun Kumar

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17262014%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

Soma Bhattacharjee

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17262014%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

Durgappa Ravi Prakash

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17262014%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

Chethan Sitarampur Sadanand

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17262014%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

language of work or name

English

0 references

publication date

16 January 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17262014%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17262014%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

volume

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17262014%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

page(s)

39-46

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17262014%20AND%20SRC:MED&resulttype=core&format=json

Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11

24 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2503190

NaBC1 is a ubiquitous electrogenic Na+ -coupled borate transporter essential for cellular boron homeostasis and cell growth and proliferation

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2503190

Identification of the cystic fibrosis gene: genetic analysis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2503190

Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2).

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2503190

Molecular pathophysiology of SLC4 bicarbonate transporters

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2503190

Human BTR1, a new bicarbonate transporter superfamily member and human AE4 from kidney

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2503190

Localization of the gene for autosomal recessive congenital hereditary endothelial dystrophy (CHED2) to chromosome 20 by homozygosity mapping

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2503190

A new pedigree with recessive mapping to CHED2 locus on 20p13.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2503190

Linkage of congenital hereditary endothelial dystrophy to chromosome 20.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2503190

Borate transport and cell growth and proliferation. Not only in plants.

19 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2503190

Nomenclature for the description of human sequence variations.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2503190

Clinical phenotype and linkage analysis of the congenital fibrosis of the extraocular muscles in an Indian family

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17262014

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

4673486

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

2 references

4673486

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17262014%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

PubMed publication ID

17262014

2 references

Consolidated OpenCitations Corpus – April 2017

4673486