Matches in SemOpenAlex for { <https://semopenalex.org/work/W294359666> ?p ?o ?g. }
- W294359666 endingPage "97" @default.
- W294359666 startingPage "887" @default.
- W294359666 abstract "An autosomal recessive deficiency of acid alpha-glucosidase (GAA), type II glycogenosis, is genetically and clinically heterogeneous. The discovery of an enzyme-inactivating genomic deletion of exon 18 in three unrelated genetic compound patients--two infants and an adult--provided a rare opportunity to analyze the effect of the second mutation in patients who displayed dramatically different phenotypes. A deletion of Lys-903 in one patient and a substitution of Arg for Leu-299 in another resulted in the fatal infantile form. In the adult, a T-to-G base change at position -13 of intron 1 resulted in alternatively spliced transcripts with deletion of exon 2, the location of the start codon. The low level of active enzyme (12% of normal) generated from the leakage of normally spliced mRNA sustained the patient to adult life." @default.
- W294359666 created "2016-06-24" @default.
- W294359666 creator A5046727318 @default.
- W294359666 creator A5056507445 @default.
- W294359666 creator A5061131591 @default.
- W294359666 creator A5066243277 @default.
- W294359666 creator A5079413162 @default.
- W294359666 creator A5087795552 @default.
- W294359666 creator A5091622048 @default.
- W294359666 date "1995-04-01" @default.
- W294359666 modified "2023-09-28" @default.
- W294359666 title "Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II." @default.
- W294359666 cites W1487168377 @default.
- W294359666 cites W1548179157 @default.
- W294359666 cites W1551625927 @default.
- W294359666 cites W1554245862 @default.
- W294359666 cites W1562852007 @default.
- W294359666 cites W1563147694 @default.
- W294359666 cites W1581834336 @default.
- W294359666 cites W1601031354 @default.
- W294359666 cites W1786920819 @default.
- W294359666 cites W1837605270 @default.
- W294359666 cites W1884263825 @default.
- W294359666 cites W1954861259 @default.
- W294359666 cites W1976050446 @default.
- W294359666 cites W1977815797 @default.
- W294359666 cites W1988159239 @default.
- W294359666 cites W1996828424 @default.
- W294359666 cites W2017643771 @default.
- W294359666 cites W2017818706 @default.
- W294359666 cites W2018780648 @default.
- W294359666 cites W2024853199 @default.
- W294359666 cites W2024973716 @default.
- W294359666 cites W2025861709 @default.
- W294359666 cites W2027487654 @default.
- W294359666 cites W2032359198 @default.
- W294359666 cites W2043733324 @default.
- W294359666 cites W2047636005 @default.
- W294359666 cites W2048763249 @default.
- W294359666 cites W2053044839 @default.
- W294359666 cites W2053631253 @default.
- W294359666 cites W2056007655 @default.
- W294359666 cites W2058252337 @default.
- W294359666 cites W2058787429 @default.
- W294359666 cites W2066160869 @default.
- W294359666 cites W2070457237 @default.
- W294359666 cites W2085848290 @default.
- W294359666 cites W2086320532 @default.
- W294359666 cites W2088888340 @default.
- W294359666 cites W2089930775 @default.
- W294359666 cites W2103170384 @default.
- W294359666 cites W2106911160 @default.
- W294359666 cites W2111556131 @default.
- W294359666 cites W2122385641 @default.
- W294359666 cites W2134812217 @default.
- W294359666 cites W2401412364 @default.
- W294359666 cites W2404795228 @default.
- W294359666 cites W240634819 @default.
- W294359666 cites W2407336398 @default.
- W294359666 cites W2415311689 @default.
- W294359666 cites W2415681283 @default.
- W294359666 cites W2417072424 @default.
- W294359666 cites W2417834982 @default.
- W294359666 cites W2441856657 @default.
- W294359666 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/1801206" @default.
- W294359666 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/7717400" @default.
- W294359666 hasPublicationYear "1995" @default.
- W294359666 type Work @default.
- W294359666 sameAs 294359666 @default.
- W294359666 citedByCount "46" @default.
- W294359666 countsByYear W2943596662013 @default.
- W294359666 countsByYear W2943596662015 @default.
- W294359666 countsByYear W2943596662016 @default.
- W294359666 countsByYear W2943596662017 @default.
- W294359666 countsByYear W2943596662018 @default.
- W294359666 countsByYear W2943596662019 @default.
- W294359666 countsByYear W2943596662020 @default.
- W294359666 countsByYear W2943596662021 @default.
- W294359666 countsByYear W2943596662022 @default.
- W294359666 countsByYear W2943596662023 @default.
- W294359666 crossrefType "journal-article" @default.
- W294359666 hasAuthorship W294359666A5046727318 @default.
- W294359666 hasAuthorship W294359666A5056507445 @default.
- W294359666 hasAuthorship W294359666A5061131591 @default.
- W294359666 hasAuthorship W294359666A5066243277 @default.
- W294359666 hasAuthorship W294359666A5079413162 @default.
- W294359666 hasAuthorship W294359666A5087795552 @default.
- W294359666 hasAuthorship W294359666A5091622048 @default.
- W294359666 hasConcept C104317684 @default.
- W294359666 hasConcept C12125453 @default.
- W294359666 hasConcept C126322002 @default.
- W294359666 hasConcept C127716648 @default.
- W294359666 hasConcept C153911025 @default.
- W294359666 hasConcept C181199279 @default.
- W294359666 hasConcept C20580545 @default.
- W294359666 hasConcept C2776735236 @default.
- W294359666 hasConcept C2778649499 @default.
- W294359666 hasConcept C2779134260 @default.