Matches in SemOpenAlex for { <https://semopenalex.org/work/W1875283591> ?p ?o ?g. }
Showing items 1 to 83 of
83
with 100 items per page.
- W1875283591 abstract "Two families with retinitis pigmentosa showed inheritance of an Arg-16-His ROM1 gene mutation with either an Arg-13-Trp RDS mutation or an Arg-135-Trp RHO mutation. The phenotypes of double and single heterozygotes were determined to examine the hypothesis that digenic inheritance may increase disease expression. In the family with ROM1 and RDS mutations, single heterozygotes were normal but one double heterozygote showed severe RP. Two other double heterozygotes, however, were normal by clinical and retinal function tests. In the family with ROM1 and RHO mutations, single heterozygotes with the RHO mutation all manifested RP, while a single heterozygote for the ROM1 mutation was normal. Disease severity was comparable in double heterozygotes and single heterozygotes HAVING the RHO mutation. We conclude that the Arg-16-His ROM1 gene mutation is non-pathogenic in the single heterozygous state, and there is no consistent evidence of digenic augmentation of pathogenicity in double heterozygotes carrying the Arg-16-His ROM1 mutation with either the benign Arg-13-Trp RDS mutation or the disease-causing Arg-135-Trp RHO mutation. (Less)" @default.
- W1875283591 created "2016-06-24" @default.
- W1875283591 creator A5003091127 @default.
- W1875283591 creator A5020152851 @default.
- W1875283591 creator A5025707835 @default.
- W1875283591 creator A5050082615 @default.
- W1875283591 creator A5052327186 @default.
- W1875283591 creator A5054517338 @default.
- W1875283591 creator A5056711547 @default.
- W1875283591 creator A5068185584 @default.
- W1875283591 creator A5075246209 @default.
- W1875283591 creator A5076735824 @default.
- W1875283591 creator A5079063384 @default.
- W1875283591 date "1999-01-01" @default.
- W1875283591 modified "2023-09-25" @default.
- W1875283591 title "Digenic inheritance of a ROM1 gene mutation with a peripherin/RDS or rhodopsin mutation in families with retinitis pigmentosa" @default.
- W1875283591 hasPublicationYear "1999" @default.
- W1875283591 type Work @default.
- W1875283591 sameAs 1875283591 @default.
- W1875283591 citedByCount "0" @default.
- W1875283591 crossrefType "journal-article" @default.
- W1875283591 hasAuthorship W1875283591A5003091127 @default.
- W1875283591 hasAuthorship W1875283591A5020152851 @default.
- W1875283591 hasAuthorship W1875283591A5025707835 @default.
- W1875283591 hasAuthorship W1875283591A5050082615 @default.
- W1875283591 hasAuthorship W1875283591A5052327186 @default.
- W1875283591 hasAuthorship W1875283591A5054517338 @default.
- W1875283591 hasAuthorship W1875283591A5056711547 @default.
- W1875283591 hasAuthorship W1875283591A5068185584 @default.
- W1875283591 hasAuthorship W1875283591A5075246209 @default.
- W1875283591 hasAuthorship W1875283591A5076735824 @default.
- W1875283591 hasAuthorship W1875283591A5079063384 @default.
- W1875283591 hasConcept C104317684 @default.
- W1875283591 hasConcept C12125453 @default.
- W1875283591 hasConcept C127716648 @default.
- W1875283591 hasConcept C135763542 @default.
- W1875283591 hasConcept C153471976 @default.
- W1875283591 hasConcept C200544954 @default.
- W1875283591 hasConcept C2781114197 @default.
- W1875283591 hasConcept C2994225774 @default.
- W1875283591 hasConcept C501734568 @default.
- W1875283591 hasConcept C54355233 @default.
- W1875283591 hasConcept C86803240 @default.
- W1875283591 hasConceptScore W1875283591C104317684 @default.
- W1875283591 hasConceptScore W1875283591C12125453 @default.
- W1875283591 hasConceptScore W1875283591C127716648 @default.
- W1875283591 hasConceptScore W1875283591C135763542 @default.
- W1875283591 hasConceptScore W1875283591C153471976 @default.
- W1875283591 hasConceptScore W1875283591C200544954 @default.
- W1875283591 hasConceptScore W1875283591C2781114197 @default.
- W1875283591 hasConceptScore W1875283591C2994225774 @default.
- W1875283591 hasConceptScore W1875283591C501734568 @default.
- W1875283591 hasConceptScore W1875283591C54355233 @default.
- W1875283591 hasConceptScore W1875283591C86803240 @default.
- W1875283591 hasIssue "6" @default.
- W1875283591 hasLocation W18752835911 @default.
- W1875283591 hasOpenAccess W1875283591 @default.
- W1875283591 hasPrimaryLocation W18752835911 @default.
- W1875283591 hasRelatedWork W1525207768 @default.
- W1875283591 hasRelatedWork W1595400946 @default.
- W1875283591 hasRelatedWork W1965046479 @default.
- W1875283591 hasRelatedWork W1995591600 @default.
- W1875283591 hasRelatedWork W2026754973 @default.
- W1875283591 hasRelatedWork W203359011 @default.
- W1875283591 hasRelatedWork W2038388119 @default.
- W1875283591 hasRelatedWork W2065228858 @default.
- W1875283591 hasRelatedWork W2080029043 @default.
- W1875283591 hasRelatedWork W2100738249 @default.
- W1875283591 hasRelatedWork W2107162101 @default.
- W1875283591 hasRelatedWork W2134392611 @default.
- W1875283591 hasRelatedWork W2144577960 @default.
- W1875283591 hasRelatedWork W2159894634 @default.
- W1875283591 hasRelatedWork W2162476911 @default.
- W1875283591 hasRelatedWork W2163608174 @default.
- W1875283591 hasRelatedWork W2378384462 @default.
- W1875283591 hasRelatedWork W2379486892 @default.
- W1875283591 hasRelatedWork W2958672998 @default.
- W1875283591 hasRelatedWork W2981539366 @default.
- W1875283591 hasVolume "5" @default.
- W1875283591 isParatext "false" @default.
- W1875283591 isRetracted "false" @default.
- W1875283591 magId "1875283591" @default.
- W1875283591 workType "article" @default.