Matches in SemOpenAlex for { <https://semopenalex.org/work/W2018127169> ?p ?o ?g. }
Showing items 1 to 89 of
89
with 100 items per page.
- W2018127169 endingPage "279" @default.
- W2018127169 startingPage "273" @default.
- W2018127169 abstract "GM1 gangliosidosis is a lysosomal storage disorder caused by the absence or reduction of lysosomal beta-galactosidase activity because of mutations in the GLB1 gene. Three major clinical forms have been established: type I (infantile), type II (late infantile/juvenile) and type III (adult). A mutational analysis was performed in 19 patients with GM1 gangliosidosis from South America, mainly from Argentina. Two of them were of Gypsy origin. Main clinical findings of the patients are presented. All 38 mutant alleles were identified: of the 22 different mutations found, 14 mutations are described here for the first time. Among the novel mutations, five deletions were found. Four of them are relatively small (c.435_440delTCT, c.845_846delC, c.1131_1145del15 and c.1706_1707delC), while the other one is a deletion of 1529 nucleotides that includes exon 5 and is caused by an unequal crossover between intronic Alu sequences. All the described patients with GM1 gangliosidosis were affected by the infantile form, except for four unrelated patients classified as type II, III, and II/III (two cases). The two type II/III patients bore the previously described p.R201H mutation, while the adult patient bore the new p.L155R. The juvenile patient bore two novel mutations: p.S434L and p.G554E. The two Gypsy patients are homozygous for the p.R59H mutation as are all Gypsy patients previously genotyped." @default.
- W2018127169 created "2016-06-24" @default.
- W2018127169 creator A5009785260 @default.
- W2018127169 creator A5033638665 @default.
- W2018127169 creator A5039869364 @default.
- W2018127169 creator A5042714518 @default.
- W2018127169 creator A5059191087 @default.
- W2018127169 date "2007-02-19" @default.
- W2018127169 modified "2023-10-16" @default.
- W2018127169 title "Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America" @default.
- W2018127169 cites W1507429610 @default.
- W2018127169 cites W1576168172 @default.
- W2018127169 cites W1964821040 @default.
- W2018127169 cites W1979186944 @default.
- W2018127169 cites W1983293150 @default.
- W2018127169 cites W1995790371 @default.
- W2018127169 cites W2007108504 @default.
- W2018127169 cites W2018946459 @default.
- W2018127169 cites W2027909072 @default.
- W2018127169 cites W2039832922 @default.
- W2018127169 cites W2049175561 @default.
- W2018127169 cites W2059173951 @default.
- W2018127169 doi "https://doi.org/10.1111/j.1399-0004.2007.00767.x" @default.
- W2018127169 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/17309651" @default.
- W2018127169 hasPublicationYear "2007" @default.
- W2018127169 type Work @default.
- W2018127169 sameAs 2018127169 @default.
- W2018127169 citedByCount "41" @default.
- W2018127169 countsByYear W20181271692012 @default.
- W2018127169 countsByYear W20181271692013 @default.
- W2018127169 countsByYear W20181271692014 @default.
- W2018127169 countsByYear W20181271692015 @default.
- W2018127169 countsByYear W20181271692016 @default.
- W2018127169 countsByYear W20181271692017 @default.
- W2018127169 countsByYear W20181271692018 @default.
- W2018127169 countsByYear W20181271692019 @default.
- W2018127169 countsByYear W20181271692020 @default.
- W2018127169 countsByYear W20181271692021 @default.
- W2018127169 countsByYear W20181271692022 @default.
- W2018127169 crossrefType "journal-article" @default.
- W2018127169 hasAuthorship W2018127169A5009785260 @default.
- W2018127169 hasAuthorship W2018127169A5033638665 @default.
- W2018127169 hasAuthorship W2018127169A5039869364 @default.
- W2018127169 hasAuthorship W2018127169A5042714518 @default.
- W2018127169 hasAuthorship W2018127169A5059191087 @default.
- W2018127169 hasConcept C104317684 @default.
- W2018127169 hasConcept C153911025 @default.
- W2018127169 hasConcept C180754005 @default.
- W2018127169 hasConcept C181199279 @default.
- W2018127169 hasConcept C2777878887 @default.
- W2018127169 hasConcept C2778264360 @default.
- W2018127169 hasConcept C36823959 @default.
- W2018127169 hasConcept C501734568 @default.
- W2018127169 hasConcept C54355233 @default.
- W2018127169 hasConcept C55493867 @default.
- W2018127169 hasConcept C86803240 @default.
- W2018127169 hasConceptScore W2018127169C104317684 @default.
- W2018127169 hasConceptScore W2018127169C153911025 @default.
- W2018127169 hasConceptScore W2018127169C180754005 @default.
- W2018127169 hasConceptScore W2018127169C181199279 @default.
- W2018127169 hasConceptScore W2018127169C2777878887 @default.
- W2018127169 hasConceptScore W2018127169C2778264360 @default.
- W2018127169 hasConceptScore W2018127169C36823959 @default.
- W2018127169 hasConceptScore W2018127169C501734568 @default.
- W2018127169 hasConceptScore W2018127169C54355233 @default.
- W2018127169 hasConceptScore W2018127169C55493867 @default.
- W2018127169 hasConceptScore W2018127169C86803240 @default.
- W2018127169 hasIssue "3" @default.
- W2018127169 hasLocation W20181271691 @default.
- W2018127169 hasLocation W20181271692 @default.
- W2018127169 hasOpenAccess W2018127169 @default.
- W2018127169 hasPrimaryLocation W20181271691 @default.
- W2018127169 hasRelatedWork W1964168685 @default.
- W2018127169 hasRelatedWork W1987212989 @default.
- W2018127169 hasRelatedWork W2000254245 @default.
- W2018127169 hasRelatedWork W2076853017 @default.
- W2018127169 hasRelatedWork W2103304553 @default.
- W2018127169 hasRelatedWork W2388007221 @default.
- W2018127169 hasRelatedWork W2412337880 @default.
- W2018127169 hasRelatedWork W2513137839 @default.
- W2018127169 hasRelatedWork W2795823005 @default.
- W2018127169 hasRelatedWork W2897819547 @default.
- W2018127169 hasVolume "71" @default.
- W2018127169 isParatext "false" @default.
- W2018127169 isRetracted "false" @default.
- W2018127169 magId "2018127169" @default.
- W2018127169 workType "article" @default.