Matches in SemOpenAlex for { <https://semopenalex.org/work/W2085981630> ?p ?o ?g. }
Showing items 1 to 93 of
93
with 100 items per page.
- W2085981630 abstract "X-linked congenital stationary night blindness (XL-CSNB) is a nonprogressive disorder of the retina, characterized by night blindness, reduced visual acuity, and myopia. Previous studies have localized the CSNB1 locus to the region between OTC and TIMP on the short arm of the X chromosome. We have carried out linkage studies in three XL-CSNB families that could not be classified as either complete or incomplete CSNB on the criteria suggested by Miyake et al. (1986. Arch. Ophthalmol. 104: 1013-1020). We used markers for the DXS538, DMD, OTC, MAOA, DXS426, and TIMP loci. Two-point analyses show that there is close linkage between CSNB and MAOA (theta max = 0.05, Zmax = 3.39), DXS426 (theta max = 0.06, Zmax = 2.42), and TIMP (theta max = 0.07, Zmax = 2.04). Two multiply informative crossovers are consistent with CSNB lying proximal to MAOA and distal to DXS426, respectively. Multipoint analysis supports this localization, giving the most likely order as DMD-17 cM-MAOA-7.5 cM-CSNB-7.5 cM-DXS426/TIMP-cen, and thus refines the localization of CSNB." @default.
- W2085981630 created "2016-06-24" @default.
- W2085981630 creator A5008186721 @default.
- W2085981630 creator A5014654033 @default.
- W2085981630 creator A5036451569 @default.
- W2085981630 creator A5038156422 @default.
- W2085981630 creator A5038246528 @default.
- W2085981630 creator A5050333085 @default.
- W2085981630 creator A5056537255 @default.
- W2085981630 creator A5059141843 @default.
- W2085981630 creator A5066657277 @default.
- W2085981630 creator A5070560630 @default.
- W2085981630 creator A5086964962 @default.
- W2085981630 creator A5089705928 @default.
- W2085981630 creator A5090427590 @default.
- W2085981630 date "1992-09-01" @default.
- W2085981630 modified "2023-09-27" @default.
- W2085981630 title "Linkage analysis in X-linked congenital stationary night blindness" @default.
- W2085981630 cites W1494999169 @default.
- W2085981630 cites W194034586 @default.
- W2085981630 cites W1990128786 @default.
- W2085981630 cites W1995457345 @default.
- W2085981630 cites W1998100066 @default.
- W2085981630 cites W2015652250 @default.
- W2085981630 cites W2019042011 @default.
- W2085981630 cites W2021945722 @default.
- W2085981630 cites W2049131306 @default.
- W2085981630 cites W2050299746 @default.
- W2085981630 cites W2051602911 @default.
- W2085981630 cites W2073463191 @default.
- W2085981630 cites W2077235629 @default.
- W2085981630 cites W2084078518 @default.
- W2085981630 cites W2084514720 @default.
- W2085981630 cites W2118949359 @default.
- W2085981630 cites W2419114380 @default.
- W2085981630 cites W80174084 @default.
- W2085981630 cites W991453543 @default.
- W2085981630 doi "https://doi.org/10.1016/s0888-7543(05)80289-7" @default.
- W2085981630 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/1427834" @default.
- W2085981630 hasPublicationYear "1992" @default.
- W2085981630 type Work @default.
- W2085981630 sameAs 2085981630 @default.
- W2085981630 citedByCount "22" @default.
- W2085981630 crossrefType "journal-article" @default.
- W2085981630 hasAuthorship W2085981630A5008186721 @default.
- W2085981630 hasAuthorship W2085981630A5014654033 @default.
- W2085981630 hasAuthorship W2085981630A5036451569 @default.
- W2085981630 hasAuthorship W2085981630A5038156422 @default.
- W2085981630 hasAuthorship W2085981630A5038246528 @default.
- W2085981630 hasAuthorship W2085981630A5050333085 @default.
- W2085981630 hasAuthorship W2085981630A5056537255 @default.
- W2085981630 hasAuthorship W2085981630A5059141843 @default.
- W2085981630 hasAuthorship W2085981630A5066657277 @default.
- W2085981630 hasAuthorship W2085981630A5070560630 @default.
- W2085981630 hasAuthorship W2085981630A5086964962 @default.
- W2085981630 hasAuthorship W2085981630A5089705928 @default.
- W2085981630 hasAuthorship W2085981630A5090427590 @default.
- W2085981630 hasConcept C104317684 @default.
- W2085981630 hasConcept C118487528 @default.
- W2085981630 hasConcept C119767625 @default.
- W2085981630 hasConcept C142870003 @default.
- W2085981630 hasConcept C2780929884 @default.
- W2085981630 hasConcept C54355233 @default.
- W2085981630 hasConcept C71924100 @default.
- W2085981630 hasConcept C84597430 @default.
- W2085981630 hasConcept C86803240 @default.
- W2085981630 hasConceptScore W2085981630C104317684 @default.
- W2085981630 hasConceptScore W2085981630C118487528 @default.
- W2085981630 hasConceptScore W2085981630C119767625 @default.
- W2085981630 hasConceptScore W2085981630C142870003 @default.
- W2085981630 hasConceptScore W2085981630C2780929884 @default.
- W2085981630 hasConceptScore W2085981630C54355233 @default.
- W2085981630 hasConceptScore W2085981630C71924100 @default.
- W2085981630 hasConceptScore W2085981630C84597430 @default.
- W2085981630 hasConceptScore W2085981630C86803240 @default.
- W2085981630 hasLocation W20859816301 @default.
- W2085981630 hasLocation W20859816302 @default.
- W2085981630 hasOpenAccess W2085981630 @default.
- W2085981630 hasPrimaryLocation W20859816301 @default.
- W2085981630 hasRelatedWork W1589392751 @default.
- W2085981630 hasRelatedWork W1828691184 @default.
- W2085981630 hasRelatedWork W1982998146 @default.
- W2085981630 hasRelatedWork W2022444980 @default.
- W2085981630 hasRelatedWork W2057739827 @default.
- W2085981630 hasRelatedWork W2084514720 @default.
- W2085981630 hasRelatedWork W2086402519 @default.
- W2085981630 hasRelatedWork W2149930723 @default.
- W2085981630 hasRelatedWork W2334620042 @default.
- W2085981630 hasRelatedWork W4233699406 @default.
- W2085981630 isParatext "false" @default.
- W2085981630 isRetracted "false" @default.
- W2085981630 magId "2085981630" @default.
- W2085981630 workType "article" @default.