Matches in SemOpenAlex for { <https://semopenalex.org/work/W2002994709> ?p ?o ?g. }
Showing items 1 to 93 of
93
with 100 items per page.
- W2002994709 endingPage "109" @default.
- W2002994709 startingPage "107" @default.
- W2002994709 abstract "Mucolipidosis III gamma is an autosomal recessive disorder with defective phosphorylation and trafficking of lysosomal enzymes. In a Chinese family with three siblings, linkage analysis revealed positive linkage of the family to GNPTG. Direct DNA sequence analysis identified two novel compound heterozygous mutations, c.471delC in exon 7 and IVS4-1G>C, in three patients. The two mutations cause frameshift and abnormal splicing, respectively, and represent the first series of GNPTG mutations in the Chinese population." @default.
- W2002994709 created "2016-06-24" @default.
- W2002994709 creator A5001936880 @default.
- W2002994709 creator A5010515168 @default.
- W2002994709 creator A5029085127 @default.
- W2002994709 creator A5030123331 @default.
- W2002994709 creator A5034320568 @default.
- W2002994709 creator A5039323098 @default.
- W2002994709 creator A5044322331 @default.
- W2002994709 creator A5066292657 @default.
- W2002994709 creator A5078223640 @default.
- W2002994709 creator A5080125836 @default.
- W2002994709 creator A5085626484 @default.
- W2002994709 date "2011-01-01" @default.
- W2002994709 modified "2023-09-27" @default.
- W2002994709 title "Identification of compound heterozygous mutations in GNPTG in three siblings of a Chinese family with mucolipidosis type III gamma" @default.
- W2002994709 cites W1976360222 @default.
- W2002994709 cites W1990489268 @default.
- W2002994709 cites W1996493838 @default.
- W2002994709 cites W2000716032 @default.
- W2002994709 cites W2003346910 @default.
- W2002994709 cites W2067061418 @default.
- W2002994709 cites W2072378482 @default.
- W2002994709 cites W2096389590 @default.
- W2002994709 cites W2106930808 @default.
- W2002994709 cites W2120234262 @default.
- W2002994709 cites W2128861085 @default.
- W2002994709 cites W2136686929 @default.
- W2002994709 cites W2163667249 @default.
- W2002994709 cites W2171455882 @default.
- W2002994709 doi "https://doi.org/10.1016/j.ymgme.2010.09.007" @default.
- W2002994709 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/20951619" @default.
- W2002994709 hasPublicationYear "2011" @default.
- W2002994709 type Work @default.
- W2002994709 sameAs 2002994709 @default.
- W2002994709 citedByCount "7" @default.
- W2002994709 countsByYear W20029947092012 @default.
- W2002994709 countsByYear W20029947092014 @default.
- W2002994709 countsByYear W20029947092016 @default.
- W2002994709 countsByYear W20029947092018 @default.
- W2002994709 countsByYear W20029947092019 @default.
- W2002994709 crossrefType "journal-article" @default.
- W2002994709 hasAuthorship W2002994709A5001936880 @default.
- W2002994709 hasAuthorship W2002994709A5010515168 @default.
- W2002994709 hasAuthorship W2002994709A5029085127 @default.
- W2002994709 hasAuthorship W2002994709A5030123331 @default.
- W2002994709 hasAuthorship W2002994709A5034320568 @default.
- W2002994709 hasAuthorship W2002994709A5039323098 @default.
- W2002994709 hasAuthorship W2002994709A5044322331 @default.
- W2002994709 hasAuthorship W2002994709A5066292657 @default.
- W2002994709 hasAuthorship W2002994709A5078223640 @default.
- W2002994709 hasAuthorship W2002994709A5080125836 @default.
- W2002994709 hasAuthorship W2002994709A5085626484 @default.
- W2002994709 hasConcept C104317684 @default.
- W2002994709 hasConcept C12125453 @default.
- W2002994709 hasConcept C29906990 @default.
- W2002994709 hasConcept C36823959 @default.
- W2002994709 hasConcept C501734568 @default.
- W2002994709 hasConcept C54355233 @default.
- W2002994709 hasConcept C54458228 @default.
- W2002994709 hasConcept C67705224 @default.
- W2002994709 hasConcept C86803240 @default.
- W2002994709 hasConceptScore W2002994709C104317684 @default.
- W2002994709 hasConceptScore W2002994709C12125453 @default.
- W2002994709 hasConceptScore W2002994709C29906990 @default.
- W2002994709 hasConceptScore W2002994709C36823959 @default.
- W2002994709 hasConceptScore W2002994709C501734568 @default.
- W2002994709 hasConceptScore W2002994709C54355233 @default.
- W2002994709 hasConceptScore W2002994709C54458228 @default.
- W2002994709 hasConceptScore W2002994709C67705224 @default.
- W2002994709 hasConceptScore W2002994709C86803240 @default.
- W2002994709 hasIssue "1" @default.
- W2002994709 hasLocation W20029947091 @default.
- W2002994709 hasLocation W20029947092 @default.
- W2002994709 hasOpenAccess W2002994709 @default.
- W2002994709 hasPrimaryLocation W20029947091 @default.
- W2002994709 hasRelatedWork W2069905251 @default.
- W2002994709 hasRelatedWork W2075503019 @default.
- W2002994709 hasRelatedWork W2083001393 @default.
- W2002994709 hasRelatedWork W2127921723 @default.
- W2002994709 hasRelatedWork W2377037724 @default.
- W2002994709 hasRelatedWork W2404792450 @default.
- W2002994709 hasRelatedWork W24577188 @default.
- W2002994709 hasRelatedWork W4235910810 @default.
- W2002994709 hasRelatedWork W59781516 @default.
- W2002994709 hasRelatedWork W3029267654 @default.
- W2002994709 hasVolume "102" @default.
- W2002994709 isParatext "false" @default.
- W2002994709 isRetracted "false" @default.
- W2002994709 magId "2002994709" @default.
- W2002994709 workType "article" @default.