FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2068559218> ?p ?o ?g. }

• W2068559218 endingPage "151" @default.
• W2068559218 startingPage "145" @default.
• W2068559218 abstract "Mucolipidosis (ML) II alpha/beta and III alpha/beta are autosomal recessive diseases caused by a deficiency of α and/or β subunits of the enzyme N-acetylglucosamine-1-phosphotransferase, which is encoded by the GNPTAB gene. We analyzed the GNPTAB gene in 25 ML II and 15 ML III Japanese patients. In most ML II patients, the clinical conditions ‘stand alone’, ‘walk without support’ and ‘speak single words’ were impaired; however, the frequency of ‘heart murmur’, ‘inguinal hernia’ and ‘hepatomegaly and/or splenomegaly’ did not differ between ML II and III patients. We detected mutations in GNPTAB in 73 of 80 alleles. Fourteen new mutations were c.914_915insA, c.2089_2090insC, c.2427delC, c.2544delA, c.2693delA, c.3310delG, c.3388_3389insC+c.3392C>T, c.3428_3429insA, c.3741_3744delAGAA, p.R334L, p.F374L, p.H956Y, p.N1153S and duplication of exon 2. Previously reported mutations were p.Q104X, p.W894X, p.R1189X and c.2715+1G>A causing skipping of exon 13. Homozygotes or compound heterozygotes of nonsense and frameshift mutations contributed to the severe phenotype. p.F374L, p.N1153S and splicing mutations contributed to the attenuated phenotype, although coupled with nonsense mutation. These results show the effective molecular diagnosis of ML II and III and also provide phenotypic prediction. This is the first and comprehensive report of molecular analysis for ML patients of Japanese origin." @default.
• W2068559218 created "2016-06-24" @default.
• W2068559218 creator A5000744089 @default.
• W2068559218 creator A5006575385 @default.
• W2068559218 creator A5014936646 @default.
• W2068559218 creator A5019881008 @default.
• W2068559218 creator A5020984709 @default.
• W2068559218 creator A5045854494 @default.
• W2068559218 creator A5046614381 @default.
• W2068559218 creator A5048659389 @default.
• W2068559218 creator A5053595622 @default.
• W2068559218 creator A5056799905 @default.
• W2068559218 creator A5065382621 @default.
• W2068559218 creator A5082293957 @default.
• W2068559218 creator A5082862780 @default.
• W2068559218 date "2009-02-06" @default.
• W2068559218 modified "2023-10-13" @default.
• W2068559218 title "Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype–phenotype correlation" @default.
• W2068559218 cites W1559147139 @default.
• W2068559218 cites W1969509583 @default.
• W2068559218 cites W1975912289 @default.
• W2068559218 cites W1976360222 @default.
• W2068559218 cites W1976751168 @default.
• W2068559218 cites W1978399347 @default.
• W2068559218 cites W2003346910 @default.
• W2068559218 cites W2024527816 @default.
• W2068559218 cites W2032266921 @default.
• W2068559218 cites W2045409145 @default.
• W2068559218 cites W2048567829 @default.
• W2068559218 cites W2063803387 @default.
• W2068559218 cites W2072378482 @default.
• W2068559218 cites W2094013274 @default.
• W2068559218 cites W2112424491 @default.
• W2068559218 cites W2136686929 @default.
• W2068559218 doi "https://doi.org/10.1038/jhg.2009.3" @default.
• W2068559218 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/19197337" @default.
• W2068559218 hasPublicationYear "2009" @default.
• W2068559218 type Work @default.
• W2068559218 sameAs 2068559218 @default.
• W2068559218 citedByCount "61" @default.
• W2068559218 countsByYear W20685592182012 @default.
• W2068559218 countsByYear W20685592182013 @default.
• W2068559218 countsByYear W20685592182014 @default.
• W2068559218 countsByYear W20685592182015 @default.
• W2068559218 countsByYear W20685592182016 @default.
• W2068559218 countsByYear W20685592182017 @default.
• W2068559218 countsByYear W20685592182018 @default.
• W2068559218 countsByYear W20685592182019 @default.
• W2068559218 countsByYear W20685592182020 @default.
• W2068559218 countsByYear W20685592182021 @default.
• W2068559218 countsByYear W20685592182022 @default.
• W2068559218 crossrefType "journal-article" @default.
• W2068559218 hasAuthorship W2068559218A5000744089 @default.
• W2068559218 hasAuthorship W2068559218A5006575385 @default.
• W2068559218 hasAuthorship W2068559218A5014936646 @default.
• W2068559218 hasAuthorship W2068559218A5019881008 @default.
• W2068559218 hasAuthorship W2068559218A5020984709 @default.
• W2068559218 hasAuthorship W2068559218A5045854494 @default.
• W2068559218 hasAuthorship W2068559218A5046614381 @default.
• W2068559218 hasAuthorship W2068559218A5048659389 @default.
• W2068559218 hasAuthorship W2068559218A5053595622 @default.
• W2068559218 hasAuthorship W2068559218A5056799905 @default.
• W2068559218 hasAuthorship W2068559218A5065382621 @default.
• W2068559218 hasAuthorship W2068559218A5082293957 @default.
• W2068559218 hasAuthorship W2068559218A5082862780 @default.
• W2068559218 hasBestOaLocation W20685592181 @default.
• W2068559218 hasConcept C104317684 @default.
• W2068559218 hasConcept C12125453 @default.
• W2068559218 hasConcept C127716648 @default.
• W2068559218 hasConcept C135763542 @default.
• W2068559218 hasConcept C153911025 @default.
• W2068559218 hasConcept C180754005 @default.
• W2068559218 hasConcept C181199279 @default.
• W2068559218 hasConcept C200844832 @default.
• W2068559218 hasConcept C2780905385 @default.
• W2068559218 hasConcept C29906990 @default.
• W2068559218 hasConcept C2994225774 @default.
• W2068559218 hasConcept C36823959 @default.
• W2068559218 hasConcept C501734568 @default.
• W2068559218 hasConcept C54355233 @default.
• W2068559218 hasConcept C55493867 @default.
• W2068559218 hasConcept C62923972 @default.
• W2068559218 hasConcept C75563809 @default.
• W2068559218 hasConcept C86803240 @default.
• W2068559218 hasConcept C96777560 @default.
• W2068559218 hasConceptScore W2068559218C104317684 @default.
• W2068559218 hasConceptScore W2068559218C12125453 @default.
• W2068559218 hasConceptScore W2068559218C127716648 @default.
• W2068559218 hasConceptScore W2068559218C135763542 @default.
• W2068559218 hasConceptScore W2068559218C153911025 @default.
• W2068559218 hasConceptScore W2068559218C180754005 @default.
• W2068559218 hasConceptScore W2068559218C181199279 @default.
• W2068559218 hasConceptScore W2068559218C200844832 @default.
• W2068559218 hasConceptScore W2068559218C2780905385 @default.
• W2068559218 hasConceptScore W2068559218C29906990 @default.
• W2068559218 hasConceptScore W2068559218C2994225774 @default.
• W2068559218 hasConceptScore W2068559218C36823959 @default.
• W2068559218 hasConceptScore W2068559218C501734568 @default.

• next