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English
CNGA3 mutations in two United Arab Emirates families with achromatopsia.
scientific article published on 10 July 2008
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Statements
instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PMCID
2464613
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18636117%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 January 2020
title
CNGA3 mutations in two United Arab Emirates families with achromatopsia
(English)
1 reference
stated in
Europe PubMed Central
PMCID
2464613
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18636117%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 January 2020
author name string
Yachna Ahuja
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMCID
2464613
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18636117%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 January 2020
Susanne Kohl
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMCID
2464613
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18636117%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 January 2020
Elias I Traboulsi
series ordinal
3
1 reference
stated in
Europe PubMed Central
PMCID
2464613
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18636117%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 January 2020
language of work or name
English
1 reference
based on heuristic
inferred from title
publication date
10 July 2008
1 reference
stated in
Europe PubMed Central
PMCID
2464613
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18636117%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 January 2020
published in
Molecular Vision
1 reference
stated in
Europe PubMed Central
PMCID
2464613
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18636117%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 January 2020
volume
14
1 reference
stated in
Europe PubMed Central
PMCID
2464613
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18636117%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 January 2020
page(s)
1293-1297
1 reference
stated in
Europe PubMed Central
PMCID
2464613
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18636117%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 January 2020
cites work
Functional analysis of rod monochromacy-associated missense mutations in the CNGA3 subunit of the cone photoreceptor cGMP-gated channel
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2464613
retrieved
29 September 2017
Genetic disorders in the Arab world
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2464613
retrieved
29 September 2017
Compound heterozygous CNGA3 mutations (R436W, L633P) in a Japanese patient with congenital achromatopsia
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2464613
retrieved
29 September 2017
Clinical and genetic features of Hungarian achromatopsia patients
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2464613
retrieved
29 September 2017
Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2464613
retrieved
29 September 2017
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2464613
retrieved
29 September 2017
Achromatopsia caused by novel mutations in both CNGA3 and CNGB3
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2464613
retrieved
29 September 2017
Cone dystrophy phenotype associated with a frameshift mutation (M280fsX291) in the alpha-subunit of cone specific transducin (GNAT2).
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2464613
retrieved
29 September 2017
A frameshift insertion in the cone cyclic nucleotide gated cation channel causes complete achromatopsia in a consanguineous family from a rural isolate.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2464613
retrieved
29 September 2017
Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2)
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2464613
retrieved
29 September 2017
Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2464613
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29 September 2017
CNGA3 mutations in hereditary cone photoreceptor disorders
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2464613
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29 September 2017
Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21.
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2464613
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29 September 2017
Genetic basis of total colourblindness among the Pingelapese islanders
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29 September 2017
Major congenital malformations in United Arab Emirates (UAE): need for genetic counselling
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2464613
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29 September 2017
Consanguineous marriages in the United Arab Emirates
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2464613
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29 September 2017
Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2464613
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29 September 2017
The profile of major congenital abnormalities in the United Arab Emirates (UAE) population
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2464613
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29 September 2017
Pingelap and Mokil Atolls: achromatopsia
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2464613
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29 September 2017
Hereditary blindness among Pingelapese people of Eastern Caroline Islands
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2464613
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29 September 2017
Clinical features of achromatopsia in Swedish patients with defined genotypes
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2464613
retrieved
27 June 2018
Identifiers
PMCID
2464613
1 reference
stated in
Europe PubMed Central
PMCID
2464613
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18636117%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 January 2020
PubMed ID
18636117
1 reference
stated in
Europe PubMed Central
PMCID
2464613
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18636117%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 January 2020
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