Matches in SemOpenAlex for { <https://semopenalex.org/work/W2034796773> ?p ?o ?g. }
Showing items 1 to 99 of
99
with 100 items per page.
- W2034796773 endingPage "754" @default.
- W2034796773 startingPage "750" @default.
- W2034796773 abstract "A child with maple syrup urine disease type 2 (MSUD2) was found to be homozygous for a 10-bp MSUD2-gene deletion on chromosome 1. Both purported parents were tested, and neither carries the gene deletion. Polymorphic simple-sequence repeat analyses at 15 loci on chromosome 1 and at 16 loci on other chromosomes confirmed parentage and revealed that a de novo mutation prior to maternal meiosis I, followed by nondisjunction in maternal meiosis II, resulted in an oocyte with two copies of the de novo mutant allele. Fertilization by a sperm that did not carry a paternal chromosome 1 or subsequent mitotic loss of the paternal chromosome 1 resulted in the propositus inheriting two mutant MSUD2 alleles on two maternal number 1 chromosomes." @default.
- W2034796773 created "2016-06-24" @default.
- W2034796773 creator A5012092032 @default.
- W2034796773 creator A5033457856 @default.
- W2034796773 creator A5046753083 @default.
- W2034796773 creator A5064358361 @default.
- W2034796773 creator A5075573492 @default.
- W2034796773 creator A5075989080 @default.
- W2034796773 creator A5091515649 @default.
- W2034796773 date "2000-09-01" @default.
- W2034796773 modified "2023-09-28" @default.
- W2034796773 title "Rare Etiology of Autosomal Recessive Disease in a Child with Noncarrier Parents" @default.
- W2034796773 cites W1223304173 @default.
- W2034796773 cites W1502061430 @default.
- W2034796773 cites W1525231237 @default.
- W2034796773 cites W1555547157 @default.
- W2034796773 cites W1988050751 @default.
- W2034796773 cites W1997559493 @default.
- W2034796773 cites W2010297340 @default.
- W2034796773 cites W2078795458 @default.
- W2034796773 cites W2087402489 @default.
- W2034796773 cites W2112066577 @default.
- W2034796773 cites W2129027570 @default.
- W2034796773 cites W2168854455 @default.
- W2034796773 cites W2169798600 @default.
- W2034796773 doi "https://doi.org/10.1086/303042" @default.
- W2034796773 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/1287534" @default.
- W2034796773 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/10915611" @default.
- W2034796773 hasPublicationYear "2000" @default.
- W2034796773 type Work @default.
- W2034796773 sameAs 2034796773 @default.
- W2034796773 citedByCount "12" @default.
- W2034796773 crossrefType "journal-article" @default.
- W2034796773 hasAuthorship W2034796773A5012092032 @default.
- W2034796773 hasAuthorship W2034796773A5033457856 @default.
- W2034796773 hasAuthorship W2034796773A5046753083 @default.
- W2034796773 hasAuthorship W2034796773A5064358361 @default.
- W2034796773 hasAuthorship W2034796773A5075573492 @default.
- W2034796773 hasAuthorship W2034796773A5075989080 @default.
- W2034796773 hasAuthorship W2034796773A5091515649 @default.
- W2034796773 hasBestOaLocation W20347967731 @default.
- W2034796773 hasConcept C104317684 @default.
- W2034796773 hasConcept C148196450 @default.
- W2034796773 hasConcept C180754005 @default.
- W2034796773 hasConcept C2776580952 @default.
- W2034796773 hasConcept C2779066155 @default.
- W2034796773 hasConcept C2779214519 @default.
- W2034796773 hasConcept C2779672484 @default.
- W2034796773 hasConcept C2910992960 @default.
- W2034796773 hasConcept C30481170 @default.
- W2034796773 hasConcept C515207424 @default.
- W2034796773 hasConcept C54355233 @default.
- W2034796773 hasConcept C86803240 @default.
- W2034796773 hasConceptScore W2034796773C104317684 @default.
- W2034796773 hasConceptScore W2034796773C148196450 @default.
- W2034796773 hasConceptScore W2034796773C180754005 @default.
- W2034796773 hasConceptScore W2034796773C2776580952 @default.
- W2034796773 hasConceptScore W2034796773C2779066155 @default.
- W2034796773 hasConceptScore W2034796773C2779214519 @default.
- W2034796773 hasConceptScore W2034796773C2779672484 @default.
- W2034796773 hasConceptScore W2034796773C2910992960 @default.
- W2034796773 hasConceptScore W2034796773C30481170 @default.
- W2034796773 hasConceptScore W2034796773C515207424 @default.
- W2034796773 hasConceptScore W2034796773C54355233 @default.
- W2034796773 hasConceptScore W2034796773C86803240 @default.
- W2034796773 hasIssue "3" @default.
- W2034796773 hasLocation W20347967731 @default.
- W2034796773 hasLocation W20347967732 @default.
- W2034796773 hasLocation W20347967733 @default.
- W2034796773 hasLocation W20347967734 @default.
- W2034796773 hasOpenAccess W2034796773 @default.
- W2034796773 hasPrimaryLocation W20347967731 @default.
- W2034796773 hasRelatedWork W1544278759 @default.
- W2034796773 hasRelatedWork W1662428389 @default.
- W2034796773 hasRelatedWork W1968097644 @default.
- W2034796773 hasRelatedWork W1971550633 @default.
- W2034796773 hasRelatedWork W1978721159 @default.
- W2034796773 hasRelatedWork W1980138094 @default.
- W2034796773 hasRelatedWork W1989703828 @default.
- W2034796773 hasRelatedWork W1991386050 @default.
- W2034796773 hasRelatedWork W1997865921 @default.
- W2034796773 hasRelatedWork W2007214149 @default.
- W2034796773 hasRelatedWork W2010297340 @default.
- W2034796773 hasRelatedWork W2012526784 @default.
- W2034796773 hasRelatedWork W2013446034 @default.
- W2034796773 hasRelatedWork W2024361253 @default.
- W2034796773 hasRelatedWork W2030228729 @default.
- W2034796773 hasRelatedWork W2039442242 @default.
- W2034796773 hasRelatedWork W2041162315 @default.
- W2034796773 hasRelatedWork W2063750325 @default.
- W2034796773 hasRelatedWork W2065827327 @default.
- W2034796773 hasRelatedWork W2078521780 @default.
- W2034796773 hasVolume "67" @default.
- W2034796773 isParatext "false" @default.
- W2034796773 isRetracted "false" @default.
- W2034796773 magId "2034796773" @default.
- W2034796773 workType "article" @default.