Matches in SemOpenAlex for { <https://semopenalex.org/work/W1543256498> ?p ?o ?g. }
Showing items 1 to 97 of
97
with 100 items per page.
- W1543256498 abstract "ACHROMATOPSIA RESULTS FROM MUTATIONS IN ONE OF THREE GENES: cyclic nucleotide-gated channel, alpha-3 (CNGA3); cyclic nucleotide-gated channel, beta-3 (CNGB3); and guanine nucleotide-binding protein, alpha-transducing activity polypeptide 2 (GNAT2). We report the responsible mutations in two United Arab Emirates families who have this autosomal recessive disease.Clinical examinations were performed in seven patients from three nuclear families. Molecular genetic testing for common CNGA3 and CNGB3 mutations was undertaken using standard protocols.All patients were extremely light sensitive and had reduced visual acuity and no color perception. Fundus examinations did not show any visible abnormalities. After further pedigree analysis, two of the families were found to be linked through the paternal line. Two mutations in CNGA3 were identified: Arg283Trp and Gly397Val. Family A, the larger pedigree, had one branch in which two sisters and one brother were homozygous for the Gly397Val mutation and another branch in which a brother and sister were compound heterozygous for both aforenamed mutations. Family B, however, only had two brothers who were homozygous for the Arg283Trp mutation.Achromatopsia in these two United Arab Emirates families results from two different mutations in CNGA3. Two branches of the same pedigree had individuals with both homozygous and compound heterozygous disease, demonstrating a complex molecular pathology in this large family." @default.
- W1543256498 created "2016-06-24" @default.
- W1543256498 creator A5020341095 @default.
- W1543256498 creator A5070016464 @default.
- W1543256498 creator A5080403811 @default.
- W1543256498 date "2008-07-10" @default.
- W1543256498 modified "2023-09-26" @default.
- W1543256498 title "CNGA3 mutations in two United Arab Emirates families with achromatopsia." @default.
- W1543256498 cites W1768628012 @default.
- W1543256498 cites W1799877731 @default.
- W1543256498 cites W1963520678 @default.
- W1543256498 cites W1978864705 @default.
- W1543256498 cites W1993150493 @default.
- W1543256498 cites W2010048790 @default.
- W1543256498 cites W2023617737 @default.
- W1543256498 cites W2063660068 @default.
- W1543256498 cites W2072897672 @default.
- W1543256498 cites W2087627928 @default.
- W1543256498 cites W2103839548 @default.
- W1543256498 cites W2111637908 @default.
- W1543256498 cites W2111875392 @default.
- W1543256498 cites W2118725728 @default.
- W1543256498 cites W2128853239 @default.
- W1543256498 cites W2130668803 @default.
- W1543256498 cites W2159266957 @default.
- W1543256498 cites W2160794628 @default.
- W1543256498 cites W2166376927 @default.
- W1543256498 cites W2171422330 @default.
- W1543256498 cites W2185323180 @default.
- W1543256498 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/2464613" @default.
- W1543256498 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/18636117" @default.
- W1543256498 hasPublicationYear "2008" @default.
- W1543256498 type Work @default.
- W1543256498 sameAs 1543256498 @default.
- W1543256498 citedByCount "6" @default.
- W1543256498 countsByYear W15432564982014 @default.
- W1543256498 countsByYear W15432564982015 @default.
- W1543256498 countsByYear W15432564982018 @default.
- W1543256498 countsByYear W15432564982020 @default.
- W1543256498 countsByYear W15432564982023 @default.
- W1543256498 crossrefType "journal-article" @default.
- W1543256498 hasAuthorship W1543256498A5020341095 @default.
- W1543256498 hasAuthorship W1543256498A5070016464 @default.
- W1543256498 hasAuthorship W1543256498A5080403811 @default.
- W1543256498 hasConcept C104317684 @default.
- W1543256498 hasConcept C131829789 @default.
- W1543256498 hasConcept C135763542 @default.
- W1543256498 hasConcept C153209595 @default.
- W1543256498 hasConcept C2777906962 @default.
- W1543256498 hasConcept C2778301229 @default.
- W1543256498 hasConcept C2778524494 @default.
- W1543256498 hasConcept C2780827179 @default.
- W1543256498 hasConcept C501734568 @default.
- W1543256498 hasConcept C512185932 @default.
- W1543256498 hasConcept C54355233 @default.
- W1543256498 hasConcept C59822182 @default.
- W1543256498 hasConcept C86803240 @default.
- W1543256498 hasConceptScore W1543256498C104317684 @default.
- W1543256498 hasConceptScore W1543256498C131829789 @default.
- W1543256498 hasConceptScore W1543256498C135763542 @default.
- W1543256498 hasConceptScore W1543256498C153209595 @default.
- W1543256498 hasConceptScore W1543256498C2777906962 @default.
- W1543256498 hasConceptScore W1543256498C2778301229 @default.
- W1543256498 hasConceptScore W1543256498C2778524494 @default.
- W1543256498 hasConceptScore W1543256498C2780827179 @default.
- W1543256498 hasConceptScore W1543256498C501734568 @default.
- W1543256498 hasConceptScore W1543256498C512185932 @default.
- W1543256498 hasConceptScore W1543256498C54355233 @default.
- W1543256498 hasConceptScore W1543256498C59822182 @default.
- W1543256498 hasConceptScore W1543256498C86803240 @default.
- W1543256498 hasLocation W15432564981 @default.
- W1543256498 hasOpenAccess W1543256498 @default.
- W1543256498 hasPrimaryLocation W15432564981 @default.
- W1543256498 hasRelatedWork W1799877731 @default.
- W1543256498 hasRelatedWork W1963520678 @default.
- W1543256498 hasRelatedWork W1978864705 @default.
- W1543256498 hasRelatedWork W2010048790 @default.
- W1543256498 hasRelatedWork W2018508411 @default.
- W1543256498 hasRelatedWork W2024751478 @default.
- W1543256498 hasRelatedWork W2036010602 @default.
- W1543256498 hasRelatedWork W2049081053 @default.
- W1543256498 hasRelatedWork W2067719495 @default.
- W1543256498 hasRelatedWork W2072897672 @default.
- W1543256498 hasRelatedWork W2076391241 @default.
- W1543256498 hasRelatedWork W2090389456 @default.
- W1543256498 hasRelatedWork W2103839548 @default.
- W1543256498 hasRelatedWork W2111637908 @default.
- W1543256498 hasRelatedWork W2120039902 @default.
- W1543256498 hasRelatedWork W2158551784 @default.
- W1543256498 hasRelatedWork W2159266957 @default.
- W1543256498 hasRelatedWork W2160794628 @default.
- W1543256498 hasRelatedWork W2166376927 @default.
- W1543256498 hasRelatedWork W2096118188 @default.
- W1543256498 isParatext "false" @default.
- W1543256498 isRetracted "false" @default.
- W1543256498 magId "1543256498" @default.
- W1543256498 workType "article" @default.