Matches in SemOpenAlex for { <https://semopenalex.org/work/W4254857202> ?p ?o ?g. }
Showing items 1 to 75 of
75
with 100 items per page.
- W4254857202 endingPage "29" @default.
- W4254857202 startingPage "23" @default.
- W4254857202 abstract "Tuberous sclerosis complex (TSC) is an autosomal dominant disorder of benign tumor formation, hamartomata, and hamartias. TSC has been shown to be genetically heterogeneous, with one causative gene mapping to chromosome 9q (denoted TSC1) and at least one other gene on chromosome 16p (denoted TSC2). The TSC2 gene was recently cloned. We have tested 88 TSC probands with the TSC2 cDNA by Southern blotting searching for gross deletions/rearrangements/insertions. We detected two deletions and a rare intragenic polymorphic variant. This is a similar rate of mutation detection (2/88; 2.3%) to that in the orignial report (10/260/;3.8%). The rare polymorphic variant was initially detected in the proband of a chromosome 9-linked multiplex TSC family. The polymorphism segregated with previously tested markers on chromosome 16 independently of the disease gene, verifying that the variation was unrelated to TSC status. We have also begun searching for subtle mutations by SSCA and direct sequencing. After screening three exons, we found two intragenic polymorphic variants. Both polymorphisms are common, making them useful for linkage studies in known affected families. © 1997 Wiley-Liss, Inc." @default.
- W4254857202 created "2022-05-12" @default.
- W4254857202 creator A5004227153 @default.
- W4254857202 creator A5047463905 @default.
- W4254857202 creator A5055437313 @default.
- W4254857202 creator A5057534469 @default.
- W4254857202 creator A5073230151 @default.
- W4254857202 creator A5081389815 @default.
- W4254857202 date "1997-01-01" @default.
- W4254857202 modified "2023-10-17" @default.
- W4254857202 title "Mutations and polymorphisms in the tuberous sclerosis complex gene on chromosome 16" @default.
- W4254857202 doi "https://doi.org/10.1002/(sici)1098-1004(1997)9:1<23::aid-humu4>3.3.co;2-8" @default.
- W4254857202 hasPublicationYear "1997" @default.
- W4254857202 type Work @default.
- W4254857202 citedByCount "0" @default.
- W4254857202 crossrefType "journal-article" @default.
- W4254857202 hasAuthorship W4254857202A5004227153 @default.
- W4254857202 hasAuthorship W4254857202A5047463905 @default.
- W4254857202 hasAuthorship W4254857202A5055437313 @default.
- W4254857202 hasAuthorship W4254857202A5057534469 @default.
- W4254857202 hasAuthorship W4254857202A5073230151 @default.
- W4254857202 hasAuthorship W4254857202A5081389815 @default.
- W4254857202 hasBestOaLocation W42548572021 @default.
- W4254857202 hasConcept C104317684 @default.
- W4254857202 hasConcept C118552586 @default.
- W4254857202 hasConcept C142870003 @default.
- W4254857202 hasConcept C153911025 @default.
- W4254857202 hasConcept C15744967 @default.
- W4254857202 hasConcept C188997412 @default.
- W4254857202 hasConcept C190283241 @default.
- W4254857202 hasConcept C2776773979 @default.
- W4254857202 hasConcept C2778980267 @default.
- W4254857202 hasConcept C2779422105 @default.
- W4254857202 hasConcept C30481170 @default.
- W4254857202 hasConcept C36823959 @default.
- W4254857202 hasConcept C501734568 @default.
- W4254857202 hasConcept C54355233 @default.
- W4254857202 hasConcept C86554907 @default.
- W4254857202 hasConcept C86803240 @default.
- W4254857202 hasConceptScore W4254857202C104317684 @default.
- W4254857202 hasConceptScore W4254857202C118552586 @default.
- W4254857202 hasConceptScore W4254857202C142870003 @default.
- W4254857202 hasConceptScore W4254857202C153911025 @default.
- W4254857202 hasConceptScore W4254857202C15744967 @default.
- W4254857202 hasConceptScore W4254857202C188997412 @default.
- W4254857202 hasConceptScore W4254857202C190283241 @default.
- W4254857202 hasConceptScore W4254857202C2776773979 @default.
- W4254857202 hasConceptScore W4254857202C2778980267 @default.
- W4254857202 hasConceptScore W4254857202C2779422105 @default.
- W4254857202 hasConceptScore W4254857202C30481170 @default.
- W4254857202 hasConceptScore W4254857202C36823959 @default.
- W4254857202 hasConceptScore W4254857202C501734568 @default.
- W4254857202 hasConceptScore W4254857202C54355233 @default.
- W4254857202 hasConceptScore W4254857202C86554907 @default.
- W4254857202 hasConceptScore W4254857202C86803240 @default.
- W4254857202 hasIssue "1" @default.
- W4254857202 hasLocation W42548572021 @default.
- W4254857202 hasOpenAccess W4254857202 @default.
- W4254857202 hasPrimaryLocation W42548572021 @default.
- W4254857202 hasRelatedWork W2000173964 @default.
- W4254857202 hasRelatedWork W2078827031 @default.
- W4254857202 hasRelatedWork W2079990039 @default.
- W4254857202 hasRelatedWork W2344405353 @default.
- W4254857202 hasRelatedWork W2387635113 @default.
- W4254857202 hasRelatedWork W2411618671 @default.
- W4254857202 hasRelatedWork W2412162169 @default.
- W4254857202 hasRelatedWork W3016221365 @default.
- W4254857202 hasRelatedWork W4254857202 @default.
- W4254857202 hasRelatedWork W4307965698 @default.
- W4254857202 hasVolume "9" @default.
- W4254857202 isParatext "false" @default.
- W4254857202 isRetracted "false" @default.
- W4254857202 workType "article" @default.