FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1889762023> ?p ?o ?g. }

• W1889762023 endingPage "173" @default.
• W1889762023 startingPage "167" @default.
• W1889762023 abstract "Neuronal ceroid lipofuscinoses (NCLs) are the most common neurodegenerative childhood-onset disorders characterized by autosomal recessive inheritance, epileptic seizures, progressive psychomotor deterioration, visual failure, and premature death. At least seven subtypes of childhood-onset NCLs have been identified of which the late-infantile-onset forms (LINCLs) are genetically the most heterogeneous with four underlying genes identified. A variant form of LINCL (vLINCL) present in Turkish patients has been considered a distinct clinical and genetic entity (CLN7). However, we recently showed that mutations in the CLN8 gene account for a subset of Turkish vLINCL. Toward identifying the CLN7 gene we here screened the known NCL loci for homozygosity in nine Turkish vLINCL families. These loci were excluded in seven families that are likely to represent the 'true' Turkish vLINCL. In two families, we identified two novel homozygous mutations in the CLN6 gene: an intronic base substitution (c.542+5G>T) affecting the splicing of the transcript and a nonsense mutation (c.663C>G) creating a stop codon at tyrosine 221. These data indicate that CLN6 mutations, in addition to those of CLN8, should be considered a diagnostic alternative in Turkish vLINCL patients. The genetic background of the 'true' Turkish vLINCL, CLN7, remains to be defined." @default.
• W1889762023 created "2016-06-24" @default.
• W1889762023 creator A5028855582 @default.
• W1889762023 creator A5036309364 @default.
• W1889762023 creator A5042806203 @default.
• W1889762023 creator A5055758989 @default.
• W1889762023 creator A5066185836 @default.
• W1889762023 creator A5067647059 @default.
• W1889762023 creator A5090251098 @default.
• W1889762023 date "2005-06-17" @default.
• W1889762023 modified "2023-10-11" @default.
• W1889762023 title "Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin" @default.
• W1889762023 cites W1555972529 @default.
• W1889762023 cites W1884093662 @default.
• W1889762023 cites W1970047246 @default.
• W1889762023 cites W1984927769 @default.
• W1889762023 cites W2009725600 @default.
• W1889762023 cites W2011933633 @default.
• W1889762023 cites W2015087800 @default.
• W1889762023 cites W2019091774 @default.
• W1889762023 cites W2020278806 @default.
• W1889762023 cites W2026713745 @default.
• W1889762023 cites W2040107841 @default.
• W1889762023 cites W2043802584 @default.
• W1889762023 cites W2059092093 @default.
• W1889762023 cites W2063318299 @default.
• W1889762023 cites W2088234686 @default.
• W1889762023 cites W2089592662 @default.
• W1889762023 cites W2102661252 @default.
• W1889762023 cites W2103894947 @default.
• W1889762023 cites W2108686581 @default.
• W1889762023 cites W2164672515 @default.
• W1889762023 cites W2165392243 @default.
• W1889762023 cites W32417562 @default.
• W1889762023 doi "https://doi.org/10.1111/j.1399-0004.2005.00471.x" @default.
• W1889762023 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/15996215" @default.
• W1889762023 hasPublicationYear "2005" @default.
• W1889762023 type Work @default.
• W1889762023 sameAs 1889762023 @default.
• W1889762023 citedByCount "29" @default.
• W1889762023 countsByYear W18897620232012 @default.
• W1889762023 countsByYear W18897620232013 @default.
• W1889762023 countsByYear W18897620232015 @default.
• W1889762023 countsByYear W18897620232017 @default.
• W1889762023 countsByYear W18897620232018 @default.
• W1889762023 countsByYear W18897620232019 @default.
• W1889762023 countsByYear W18897620232020 @default.
• W1889762023 countsByYear W18897620232021 @default.
• W1889762023 crossrefType "journal-article" @default.
• W1889762023 hasAuthorship W1889762023A5028855582 @default.
• W1889762023 hasAuthorship W1889762023A5036309364 @default.
• W1889762023 hasAuthorship W1889762023A5042806203 @default.
• W1889762023 hasAuthorship W1889762023A5055758989 @default.
• W1889762023 hasAuthorship W1889762023A5066185836 @default.
• W1889762023 hasAuthorship W1889762023A5067647059 @default.
• W1889762023 hasAuthorship W1889762023A5090251098 @default.
• W1889762023 hasConcept C104317684 @default.
• W1889762023 hasConcept C130895681 @default.
• W1889762023 hasConcept C138885662 @default.
• W1889762023 hasConcept C142724271 @default.
• W1889762023 hasConcept C16671776 @default.
• W1889762023 hasConcept C204787440 @default.
• W1889762023 hasConcept C2776202747 @default.
• W1889762023 hasConcept C2778650512 @default.
• W1889762023 hasConcept C2781121862 @default.
• W1889762023 hasConcept C41895202 @default.
• W1889762023 hasConcept C501734568 @default.
• W1889762023 hasConcept C54355233 @default.
• W1889762023 hasConcept C71924100 @default.
• W1889762023 hasConcept C75563809 @default.
• W1889762023 hasConcept C86803240 @default.
• W1889762023 hasConcept C96777560 @default.
• W1889762023 hasConceptScore W1889762023C104317684 @default.
• W1889762023 hasConceptScore W1889762023C130895681 @default.
• W1889762023 hasConceptScore W1889762023C138885662 @default.
• W1889762023 hasConceptScore W1889762023C142724271 @default.
• W1889762023 hasConceptScore W1889762023C16671776 @default.
• W1889762023 hasConceptScore W1889762023C204787440 @default.
• W1889762023 hasConceptScore W1889762023C2776202747 @default.
• W1889762023 hasConceptScore W1889762023C2778650512 @default.
• W1889762023 hasConceptScore W1889762023C2781121862 @default.
• W1889762023 hasConceptScore W1889762023C41895202 @default.
• W1889762023 hasConceptScore W1889762023C501734568 @default.
• W1889762023 hasConceptScore W1889762023C54355233 @default.
• W1889762023 hasConceptScore W1889762023C71924100 @default.
• W1889762023 hasConceptScore W1889762023C75563809 @default.
• W1889762023 hasConceptScore W1889762023C86803240 @default.
• W1889762023 hasConceptScore W1889762023C96777560 @default.
• W1889762023 hasIssue "2" @default.
• W1889762023 hasLocation W18897620231 @default.
• W1889762023 hasLocation W18897620232 @default.
• W1889762023 hasOpenAccess W1889762023 @default.
• W1889762023 hasPrimaryLocation W18897620231 @default.
• W1889762023 hasRelatedWork W2052060433 @default.
• W1889762023 hasRelatedWork W2093431846 @default.
• W1889762023 hasRelatedWork W2531367685 @default.
• W1889762023 hasRelatedWork W2552813041 @default.
• W1889762023 hasRelatedWork W2611695415 @default.

• next