Matches in SemOpenAlex for { <https://semopenalex.org/work/W2082089074> ?p ?o ?g. }
Showing items 1 to 72 of
72
with 100 items per page.
- W2082089074 endingPage "952" @default.
- W2082089074 startingPage "947" @default.
- W2082089074 abstract "We have used cell lines from patients with deletions and translocations involving the Xp22 region to map the genes for two X-linked disorders, ocular albinism type 1 (OA1) and microphthalmia with linear skin defects (MLS). Using existing and newly isolated DNA markers, the map position within Xp22 of key patient breakpoints, defining the boundaries of the genomic regions involved in these disorders (the critical regions), has been precisely determined. A 2.6 Mb yeast artificial chromosome (YAC) contig, spanning the critical regions for these two disorders, was assembled. Detailed long-range restriction analysis of the contig established the sizes of the critical regions to be 200 kb for OA1 and 800 - 925 kb for MLS. Ten potential CpG-islands, representing candidate sites for genes, have been mapped within the 2.6 Mb region. Our data should greatly facilitate efforts aimed at cloning the genes for these developmental defects." @default.
- W2082089074 created "2016-06-24" @default.
- W2082089074 creator A5008921903 @default.
- W2082089074 creator A5020701219 @default.
- W2082089074 creator A5028413943 @default.
- W2082089074 creator A5052639092 @default.
- W2082089074 creator A5065678326 @default.
- W2082089074 creator A5077487765 @default.
- W2082089074 creator A5081632437 @default.
- W2082089074 creator A5090129607 @default.
- W2082089074 date "1993-01-01" @default.
- W2082089074 modified "2023-10-15" @default.
- W2082089074 title "The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regions" @default.
- W2082089074 doi "https://doi.org/10.1093/hmg/2.7.947" @default.
- W2082089074 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/8364577" @default.
- W2082089074 hasPublicationYear "1993" @default.
- W2082089074 type Work @default.
- W2082089074 sameAs 2082089074 @default.
- W2082089074 citedByCount "45" @default.
- W2082089074 countsByYear W20820890742013 @default.
- W2082089074 countsByYear W20820890742014 @default.
- W2082089074 countsByYear W20820890742021 @default.
- W2082089074 countsByYear W20820890742022 @default.
- W2082089074 crossrefType "journal-article" @default.
- W2082089074 hasAuthorship W2082089074A5008921903 @default.
- W2082089074 hasAuthorship W2082089074A5020701219 @default.
- W2082089074 hasAuthorship W2082089074A5028413943 @default.
- W2082089074 hasAuthorship W2082089074A5052639092 @default.
- W2082089074 hasAuthorship W2082089074A5065678326 @default.
- W2082089074 hasAuthorship W2082089074A5077487765 @default.
- W2082089074 hasAuthorship W2082089074A5081632437 @default.
- W2082089074 hasAuthorship W2082089074A5090129607 @default.
- W2082089074 hasConcept C104317684 @default.
- W2082089074 hasConcept C122735190 @default.
- W2082089074 hasConcept C141231307 @default.
- W2082089074 hasConcept C2778085061 @default.
- W2082089074 hasConcept C30481170 @default.
- W2082089074 hasConcept C54355233 @default.
- W2082089074 hasConcept C59582021 @default.
- W2082089074 hasConcept C6970260 @default.
- W2082089074 hasConcept C86803240 @default.
- W2082089074 hasConceptScore W2082089074C104317684 @default.
- W2082089074 hasConceptScore W2082089074C122735190 @default.
- W2082089074 hasConceptScore W2082089074C141231307 @default.
- W2082089074 hasConceptScore W2082089074C2778085061 @default.
- W2082089074 hasConceptScore W2082089074C30481170 @default.
- W2082089074 hasConceptScore W2082089074C54355233 @default.
- W2082089074 hasConceptScore W2082089074C59582021 @default.
- W2082089074 hasConceptScore W2082089074C6970260 @default.
- W2082089074 hasConceptScore W2082089074C86803240 @default.
- W2082089074 hasIssue "7" @default.
- W2082089074 hasLocation W20820890741 @default.
- W2082089074 hasLocation W20820890742 @default.
- W2082089074 hasOpenAccess W2082089074 @default.
- W2082089074 hasPrimaryLocation W20820890741 @default.
- W2082089074 hasRelatedWork W1969327338 @default.
- W2082089074 hasRelatedWork W1998663525 @default.
- W2082089074 hasRelatedWork W2004739524 @default.
- W2082089074 hasRelatedWork W2032543942 @default.
- W2082089074 hasRelatedWork W2041300097 @default.
- W2082089074 hasRelatedWork W2047101443 @default.
- W2082089074 hasRelatedWork W2125979046 @default.
- W2082089074 hasRelatedWork W2133754563 @default.
- W2082089074 hasRelatedWork W2170023388 @default.
- W2082089074 hasRelatedWork W4233072535 @default.
- W2082089074 hasVolume "2" @default.
- W2082089074 isParatext "false" @default.
- W2082089074 isRetracted "false" @default.
- W2082089074 magId "2082089074" @default.
- W2082089074 workType "article" @default.