FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2018946459> ?p ?o ?g. }

• W2018946459 endingPage "409" @default.
• W2018946459 startingPage "401" @default.
• W2018946459 abstract "GM1-gangliosidosis is a lysosomal storage disease caused by a deficiency of acid β-galactosidase. Three clinical forms are recognized—infantile, juvenile, and adult—based on age of onset and severity of the symptoms. We have performed molecular analysis of a large cohort of GM1 patients (19 Brazilian and one Uruguayan), using nonradioactive single-strand conformation polymorphism (SSCP) and restriction enzyme analysis of genomic DNA. Six novel mutations (R121S, V240M, D491N, 638–641insT, 895–896insC, 1622–1627insG) and two previously described point mutations (R59H, R208C) were identified. Together they accounted for 90% of the disease alleles of the patients. Two mutations, 1622–1627insG and R59H, were present in 18 of 20 patients. In addition, four polymorphisms (L10P, L12L, R521C, S532G) were identified. All cases reported are infantile GM1 gangliosidosis. This report constitutes the most comprehensive molecular study to date of this disorder in infantile patients. Since GM1-gangliosidosis is the most common lysosomal storage disorder in Southern Brazil, molecular diagnosis will be important for genetic counseling, carrier detection and prenatal diagnosis in index families. Hum Mutat 13:401–409, 1999. © 1999 Wiley-Liss, Inc." @default.
• W2018946459 created "2016-06-24" @default.
• W2018946459 creator A5003213652 @default.
• W2018946459 creator A5019887587 @default.
• W2018946459 creator A5028602536 @default.
• W2018946459 creator A5055892112 @default.
• W2018946459 creator A5064263875 @default.
• W2018946459 creator A5074222588 @default.
• W2018946459 creator A5089564343 @default.
• W2018946459 date "1999-01-01" @default.
• W2018946459 modified "2023-10-17" @default.
• W2018946459 title "Six novel ?-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosis" @default.
• W2018946459 cites W13235636 @default.
• W2018946459 cites W1495814740 @default.
• W2018946459 cites W1507429610 @default.
• W2018946459 cites W1601276957 @default.
• W2018946459 cites W1624368848 @default.
• W2018946459 cites W1971102110 @default.
• W2018946459 cites W2002963078 @default.
• W2018946459 cites W2003317437 @default.
• W2018946459 cites W2012085559 @default.
• W2018946459 cites W2018847497 @default.
• W2018946459 cites W2037487329 @default.
• W2018946459 cites W2048236113 @default.
• W2018946459 cites W2049224703 @default.
• W2018946459 cites W2075493559 @default.
• W2018946459 cites W2081757666 @default.
• W2018946459 cites W2091234795 @default.
• W2018946459 cites W2118094114 @default.
• W2018946459 cites W2145655362 @default.
• W2018946459 cites W2162006840 @default.
• W2018946459 cites W2166201848 @default.
• W2018946459 cites W2171617783 @default.
• W2018946459 cites W32592510 @default.
• W2018946459 doi "https://doi.org/10.1002/(sici)1098-1004(1999)13:5<401::aid-humu9>3.0.co;2-n" @default.
• W2018946459 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/10338095" @default.
• W2018946459 hasPublicationYear "1999" @default.
• W2018946459 type Work @default.
• W2018946459 sameAs 2018946459 @default.
• W2018946459 citedByCount "44" @default.
• W2018946459 countsByYear W20189464592012 @default.
• W2018946459 countsByYear W20189464592013 @default.
• W2018946459 countsByYear W20189464592014 @default.
• W2018946459 countsByYear W20189464592015 @default.
• W2018946459 countsByYear W20189464592016 @default.
• W2018946459 countsByYear W20189464592017 @default.
• W2018946459 countsByYear W20189464592018 @default.
• W2018946459 countsByYear W20189464592019 @default.
• W2018946459 countsByYear W20189464592020 @default.
• W2018946459 countsByYear W20189464592021 @default.
• W2018946459 countsByYear W20189464592022 @default.
• W2018946459 crossrefType "journal-article" @default.
• W2018946459 hasAuthorship W2018946459A5003213652 @default.
• W2018946459 hasAuthorship W2018946459A5019887587 @default.
• W2018946459 hasAuthorship W2018946459A5028602536 @default.
• W2018946459 hasAuthorship W2018946459A5055892112 @default.
• W2018946459 hasAuthorship W2018946459A5064263875 @default.
• W2018946459 hasAuthorship W2018946459A5074222588 @default.
• W2018946459 hasAuthorship W2018946459A5089564343 @default.
• W2018946459 hasBestOaLocation W20189464591 @default.
• W2018946459 hasConcept C104317684 @default.
• W2018946459 hasConcept C129219603 @default.
• W2018946459 hasConcept C176944494 @default.
• W2018946459 hasConcept C17757408 @default.
• W2018946459 hasConcept C180754005 @default.
• W2018946459 hasConcept C181199279 @default.
• W2018946459 hasConcept C2777878887 @default.
• W2018946459 hasConcept C2778264360 @default.
• W2018946459 hasConcept C36823959 @default.
• W2018946459 hasConcept C501734568 @default.
• W2018946459 hasConcept C54355233 @default.
• W2018946459 hasConcept C55493867 @default.
• W2018946459 hasConcept C80227256 @default.
• W2018946459 hasConcept C86803240 @default.
• W2018946459 hasConceptScore W2018946459C104317684 @default.
• W2018946459 hasConceptScore W2018946459C129219603 @default.
• W2018946459 hasConceptScore W2018946459C176944494 @default.
• W2018946459 hasConceptScore W2018946459C17757408 @default.
• W2018946459 hasConceptScore W2018946459C180754005 @default.
• W2018946459 hasConceptScore W2018946459C181199279 @default.
• W2018946459 hasConceptScore W2018946459C2777878887 @default.
• W2018946459 hasConceptScore W2018946459C2778264360 @default.
• W2018946459 hasConceptScore W2018946459C36823959 @default.
• W2018946459 hasConceptScore W2018946459C501734568 @default.
• W2018946459 hasConceptScore W2018946459C54355233 @default.
• W2018946459 hasConceptScore W2018946459C55493867 @default.
• W2018946459 hasConceptScore W2018946459C80227256 @default.
• W2018946459 hasConceptScore W2018946459C86803240 @default.
• W2018946459 hasIssue "5" @default.
• W2018946459 hasLocation W20189464591 @default.
• W2018946459 hasLocation W20189464592 @default.
• W2018946459 hasOpenAccess W2018946459 @default.
• W2018946459 hasPrimaryLocation W20189464591 @default.
• W2018946459 hasRelatedWork W2045514639 @default.
• W2018946459 hasRelatedWork W2068932327 @default.
• W2018946459 hasRelatedWork W2140698435 @default.
• W2018946459 hasRelatedWork W2258430434 @default.
• W2018946459 hasRelatedWork W2350102540 @default.

• next