Matches in SemOpenAlex for { <https://semopenalex.org/work/W2005761591> ?p ?o ?g. }
Showing items 1 to 86 of
86
with 100 items per page.
- W2005761591 abstract "We investigated 2 Chinese families with dyschromatosis symmetrica hereditaria (DSH) and search for mutations in the adenosine deaminase acting on RNA1 (ADAR1) gene in these 2 pedigrees. We performed a mutation analysis of the ADAR1 gene in 2 Chinese families with DSH and reviewed all articles published regarding ADAR1 mutations reported since 2003 by using PubMed. By direct sequencing, a 2-nucleotide AG deletion, 2099-2100delAG, was found in family 1, and a C→T mutation was identified at nucleotide 1420 that changed codon 474 from arginine to a translational termination codon in family 2. Two different pathogenic mutations were identified, c.2099-2100delAG and c.1420C>T, the former being a novel mutation, and the latter previously reported in 3 other families with DSH. To date, a total of 110 mutations in the ADAR1 gene have been reported, and 10 of them were recurrent; the mutations R474X, R1083C, R1096X, and R1155W might be the DSH-related hotspots." @default.
- W2005761591 created "2016-06-24" @default.
- W2005761591 creator A5015970262 @default.
- W2005761591 creator A5046223262 @default.
- W2005761591 creator A5048376696 @default.
- W2005761591 creator A5055849776 @default.
- W2005761591 creator A5059520719 @default.
- W2005761591 creator A5069700804 @default.
- W2005761591 creator A5087992268 @default.
- W2005761591 creator A5088768167 @default.
- W2005761591 date "2013-01-01" @default.
- W2005761591 modified "2023-09-28" @default.
- W2005761591 title "Mutations in the ADAR1 gene in 2 Chinese families with dyschromatosis symmetrica hereditaria" @default.
- W2005761591 cites W1520670133 @default.
- W2005761591 cites W1571089835 @default.
- W2005761591 cites W1985905658 @default.
- W2005761591 cites W1986264439 @default.
- W2005761591 cites W1990782850 @default.
- W2005761591 cites W1992870229 @default.
- W2005761591 cites W1996063915 @default.
- W2005761591 cites W2008673665 @default.
- W2005761591 cites W2014118067 @default.
- W2005761591 cites W2026681534 @default.
- W2005761591 cites W2028214258 @default.
- W2005761591 cites W2030018043 @default.
- W2005761591 cites W2074771547 @default.
- W2005761591 cites W2077029985 @default.
- W2005761591 cites W2088776771 @default.
- W2005761591 cites W2090399094 @default.
- W2005761591 cites W2093023350 @default.
- W2005761591 cites W2097477228 @default.
- W2005761591 cites W2115015688 @default.
- W2005761591 cites W2140174135 @default.
- W2005761591 cites W2147920151 @default.
- W2005761591 cites W2153740107 @default.
- W2005761591 cites W2407427053 @default.
- W2005761591 cites W3146407523 @default.
- W2005761591 doi "https://doi.org/10.4238/2013.january.4.18" @default.
- W2005761591 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23315877" @default.
- W2005761591 hasPublicationYear "2013" @default.
- W2005761591 type Work @default.
- W2005761591 sameAs 2005761591 @default.
- W2005761591 citedByCount "1" @default.
- W2005761591 countsByYear W20057615912016 @default.
- W2005761591 crossrefType "journal-article" @default.
- W2005761591 hasAuthorship W2005761591A5015970262 @default.
- W2005761591 hasAuthorship W2005761591A5046223262 @default.
- W2005761591 hasAuthorship W2005761591A5048376696 @default.
- W2005761591 hasAuthorship W2005761591A5055849776 @default.
- W2005761591 hasAuthorship W2005761591A5059520719 @default.
- W2005761591 hasAuthorship W2005761591A5069700804 @default.
- W2005761591 hasAuthorship W2005761591A5087992268 @default.
- W2005761591 hasAuthorship W2005761591A5088768167 @default.
- W2005761591 hasBestOaLocation W20057615911 @default.
- W2005761591 hasConcept C104317684 @default.
- W2005761591 hasConcept C22593422 @default.
- W2005761591 hasConcept C2994225774 @default.
- W2005761591 hasConcept C501734568 @default.
- W2005761591 hasConcept C54355233 @default.
- W2005761591 hasConcept C86803240 @default.
- W2005761591 hasConceptScore W2005761591C104317684 @default.
- W2005761591 hasConceptScore W2005761591C22593422 @default.
- W2005761591 hasConceptScore W2005761591C2994225774 @default.
- W2005761591 hasConceptScore W2005761591C501734568 @default.
- W2005761591 hasConceptScore W2005761591C54355233 @default.
- W2005761591 hasConceptScore W2005761591C86803240 @default.
- W2005761591 hasIssue "AOP" @default.
- W2005761591 hasLocation W20057615911 @default.
- W2005761591 hasLocation W20057615912 @default.
- W2005761591 hasOpenAccess W2005761591 @default.
- W2005761591 hasPrimaryLocation W20057615911 @default.
- W2005761591 hasRelatedWork W2011051813 @default.
- W2005761591 hasRelatedWork W2041275779 @default.
- W2005761591 hasRelatedWork W2050051737 @default.
- W2005761591 hasRelatedWork W2059998724 @default.
- W2005761591 hasRelatedWork W2361929138 @default.
- W2005761591 hasRelatedWork W2369420545 @default.
- W2005761591 hasRelatedWork W2382362179 @default.
- W2005761591 hasRelatedWork W2390163949 @default.
- W2005761591 hasRelatedWork W2762649193 @default.
- W2005761591 hasRelatedWork W80739611 @default.
- W2005761591 hasVolume "12" @default.
- W2005761591 isParatext "false" @default.
- W2005761591 isRetracted "false" @default.
- W2005761591 magId "2005761591" @default.
- W2005761591 workType "article" @default.