Matches in SemOpenAlex for { <https://semopenalex.org/work/W2011844110> ?p ?o ?g. }
Showing items 1 to 88 of
88
with 100 items per page.
- W2011844110 endingPage "99" @default.
- W2011844110 startingPage "96" @default.
- W2011844110 abstract "A new splicing site substitution (c.985-1G>C) in the glucose-6-phosphate translocase (G6PT1) gene was detected in both alleles of an Argentinean patient. This mutation was associated with an unusual GSD-Ib phenotype without neutropenia. A PCR-based cDNA analysis showed that the c.985-1G>C mutation produced two abnormal spliced G6PT1 transcripts both encoding hypothetical truncated proteins." @default.
- W2011844110 created "2016-06-24" @default.
- W2011844110 creator A5030354322 @default.
- W2011844110 creator A5031769977 @default.
- W2011844110 creator A5038346732 @default.
- W2011844110 creator A5044585148 @default.
- W2011844110 creator A5061054265 @default.
- W2011844110 creator A5063210919 @default.
- W2011844110 creator A5080940716 @default.
- W2011844110 date "2006-05-01" @default.
- W2011844110 modified "2023-10-09" @default.
- W2011844110 title "Glycogen storage disease type Ib without neutropenia generated by a novel splice-site mutation in the glucose-6-phosphate translocase gene" @default.
- W2011844110 cites W1983595761 @default.
- W2011844110 cites W1991473633 @default.
- W2011844110 cites W2054126959 @default.
- W2011844110 cites W2057646882 @default.
- W2011844110 cites W2074327560 @default.
- W2011844110 cites W2077408729 @default.
- W2011844110 cites W2093142478 @default.
- W2011844110 cites W2114442866 @default.
- W2011844110 cites W2151630485 @default.
- W2011844110 cites W2171242678 @default.
- W2011844110 cites W252972959 @default.
- W2011844110 doi "https://doi.org/10.1016/j.ymgme.2005.12.011" @default.
- W2011844110 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/16490377" @default.
- W2011844110 hasPublicationYear "2006" @default.
- W2011844110 type Work @default.
- W2011844110 sameAs 2011844110 @default.
- W2011844110 citedByCount "11" @default.
- W2011844110 countsByYear W20118441102013 @default.
- W2011844110 countsByYear W20118441102018 @default.
- W2011844110 countsByYear W20118441102019 @default.
- W2011844110 countsByYear W20118441102020 @default.
- W2011844110 countsByYear W20118441102021 @default.
- W2011844110 crossrefType "journal-article" @default.
- W2011844110 hasAuthorship W2011844110A5030354322 @default.
- W2011844110 hasAuthorship W2011844110A5031769977 @default.
- W2011844110 hasAuthorship W2011844110A5038346732 @default.
- W2011844110 hasAuthorship W2011844110A5044585148 @default.
- W2011844110 hasAuthorship W2011844110A5061054265 @default.
- W2011844110 hasAuthorship W2011844110A5063210919 @default.
- W2011844110 hasAuthorship W2011844110A5080940716 @default.
- W2011844110 hasConcept C104317684 @default.
- W2011844110 hasConcept C153911025 @default.
- W2011844110 hasConcept C2777499176 @default.
- W2011844110 hasConcept C2779018223 @default.
- W2011844110 hasConcept C2779468605 @default.
- W2011844110 hasConcept C501734568 @default.
- W2011844110 hasConcept C54355233 @default.
- W2011844110 hasConcept C54458228 @default.
- W2011844110 hasConcept C55493867 @default.
- W2011844110 hasConcept C62257209 @default.
- W2011844110 hasConcept C67705224 @default.
- W2011844110 hasConcept C86803240 @default.
- W2011844110 hasConceptScore W2011844110C104317684 @default.
- W2011844110 hasConceptScore W2011844110C153911025 @default.
- W2011844110 hasConceptScore W2011844110C2777499176 @default.
- W2011844110 hasConceptScore W2011844110C2779018223 @default.
- W2011844110 hasConceptScore W2011844110C2779468605 @default.
- W2011844110 hasConceptScore W2011844110C501734568 @default.
- W2011844110 hasConceptScore W2011844110C54355233 @default.
- W2011844110 hasConceptScore W2011844110C54458228 @default.
- W2011844110 hasConceptScore W2011844110C55493867 @default.
- W2011844110 hasConceptScore W2011844110C62257209 @default.
- W2011844110 hasConceptScore W2011844110C67705224 @default.
- W2011844110 hasConceptScore W2011844110C86803240 @default.
- W2011844110 hasIssue "1" @default.
- W2011844110 hasLocation W20118441101 @default.
- W2011844110 hasLocation W20118441102 @default.
- W2011844110 hasOpenAccess W2011844110 @default.
- W2011844110 hasPrimaryLocation W20118441101 @default.
- W2011844110 hasRelatedWork W1851998043 @default.
- W2011844110 hasRelatedWork W1913135618 @default.
- W2011844110 hasRelatedWork W1983954245 @default.
- W2011844110 hasRelatedWork W2011844110 @default.
- W2011844110 hasRelatedWork W2013123757 @default.
- W2011844110 hasRelatedWork W2085975240 @default.
- W2011844110 hasRelatedWork W2098325466 @default.
- W2011844110 hasRelatedWork W2385130702 @default.
- W2011844110 hasRelatedWork W2733300197 @default.
- W2011844110 hasRelatedWork W4315629143 @default.
- W2011844110 hasVolume "88" @default.
- W2011844110 isParatext "false" @default.
- W2011844110 isRetracted "false" @default.
- W2011844110 magId "2011844110" @default.
- W2011844110 workType "article" @default.