Matches in SemOpenAlex for { <https://semopenalex.org/work/W2624204025> ?p ?o ?g. }
Showing items 1 to 58 of
58
with 100 items per page.
- W2624204025 abstract "disease (HD)isassociated withexpansion ofaCAG repeatinanew gene.We haverecently defined apremu- tation inapaternal allele of30to38CAG repeats intheHD genewhichisgreater thanthatseeninthegeneral population ( 38).Theseinter- mediatealleles are unstableduring transmission throughthegermline and insporadic casesexpandtothefull muta- tionassociated withtheclinical pheno- typeofHD.Herewehaveanalysed three newmutation families where,ineach, the probandandatleast onesibhaveCAG sizesintheHD range.Inoneofthese families, twosibswithexpandedCAG repeats arebothclinically affected with HD, thuspresenting a pseudorecessive pattern ofinheritance. Inallthreefami- liestheparental intermediate allele has expandedinmore thanone offspring, thusshowinga previously unrecognised riskofinheriting HD tosibsofsporadic casesofHD. (J7 MedGenet1993;30:987-90)" @default.
- W2624204025 created "2017-06-15" @default.
- W2624204025 creator A5047722409 @default.
- W2624204025 date "1993-01-01" @default.
- W2624204025 modified "2023-09-27" @default.
- W2624204025 title "Familial predisposition torecurrentmutations causing Huntington's disease: genetic risk tosibs ofsporadic cases" @default.
- W2624204025 cites W2185284534 @default.
- W2624204025 hasPublicationYear "1993" @default.
- W2624204025 type Work @default.
- W2624204025 sameAs 2624204025 @default.
- W2624204025 citedByCount "0" @default.
- W2624204025 crossrefType "journal-article" @default.
- W2624204025 hasAuthorship W2624204025A5047722409 @default.
- W2624204025 hasConcept C104317684 @default.
- W2624204025 hasConcept C112672928 @default.
- W2624204025 hasConcept C180754005 @default.
- W2624204025 hasConcept C2779234561 @default.
- W2624204025 hasConcept C2908647359 @default.
- W2624204025 hasConcept C54355233 @default.
- W2624204025 hasConcept C71924100 @default.
- W2624204025 hasConcept C86803240 @default.
- W2624204025 hasConcept C99454951 @default.
- W2624204025 hasConceptScore W2624204025C104317684 @default.
- W2624204025 hasConceptScore W2624204025C112672928 @default.
- W2624204025 hasConceptScore W2624204025C180754005 @default.
- W2624204025 hasConceptScore W2624204025C2779234561 @default.
- W2624204025 hasConceptScore W2624204025C2908647359 @default.
- W2624204025 hasConceptScore W2624204025C54355233 @default.
- W2624204025 hasConceptScore W2624204025C71924100 @default.
- W2624204025 hasConceptScore W2624204025C86803240 @default.
- W2624204025 hasConceptScore W2624204025C99454951 @default.
- W2624204025 hasLocation W26242040251 @default.
- W2624204025 hasOpenAccess W2624204025 @default.
- W2624204025 hasPrimaryLocation W26242040251 @default.
- W2624204025 hasRelatedWork W1960914337 @default.
- W2624204025 hasRelatedWork W1968888912 @default.
- W2624204025 hasRelatedWork W1982945967 @default.
- W2624204025 hasRelatedWork W1986615997 @default.
- W2624204025 hasRelatedWork W2020663002 @default.
- W2624204025 hasRelatedWork W2054703193 @default.
- W2624204025 hasRelatedWork W2055101918 @default.
- W2624204025 hasRelatedWork W2060472079 @default.
- W2624204025 hasRelatedWork W2069287040 @default.
- W2624204025 hasRelatedWork W2093804948 @default.
- W2624204025 hasRelatedWork W2093890452 @default.
- W2624204025 hasRelatedWork W2103675937 @default.
- W2624204025 hasRelatedWork W2114438915 @default.
- W2624204025 hasRelatedWork W2135764047 @default.
- W2624204025 hasRelatedWork W2141672954 @default.
- W2624204025 hasRelatedWork W2142522898 @default.
- W2624204025 hasRelatedWork W2147470069 @default.
- W2624204025 hasRelatedWork W2494873802 @default.
- W2624204025 hasRelatedWork W2605073872 @default.
- W2624204025 hasRelatedWork W3047717920 @default.
- W2624204025 isParatext "false" @default.
- W2624204025 isRetracted "false" @default.
- W2624204025 magId "2624204025" @default.
- W2624204025 workType "article" @default.