Matches in SemOpenAlex for { <https://semopenalex.org/work/W2912294431> ?p ?o ?g. }
Showing items 1 to 100 of
100
with 100 items per page.
- W2912294431 endingPage "669" @default.
- W2912294431 startingPage "665" @default.
- W2912294431 abstract "We found a sporadic case of mental retardation associated with short stature and constipation. We investigated the possible genetic origin of the syndrome. Clinical and biochemical investigations were conducted. Exome sequencing was used to search for pathogenic variations. A de novo mutation (c.1183G>T, p.E395X) was found in one allele of the THRA gene. The mutation creates a stop codon, which eliminates the C-terminal helix of the TRα1 receptor for thyroid hormone. The patient has typical symptoms for the resistance to thyroid hormone α (RTHα) genetic disease, but has a normal head circumference. There are now 21 known mutations in THRA. All mutations that alter the C-terminal helix of TRα1 lead to severe forms of RTHα." @default.
- W2912294431 created "2019-02-21" @default.
- W2912294431 creator A5033219430 @default.
- W2912294431 creator A5039832836 @default.
- W2912294431 creator A5044073539 @default.
- W2912294431 creator A5046341345 @default.
- W2912294431 creator A5053047351 @default.
- W2912294431 creator A5055826574 @default.
- W2912294431 creator A5064820931 @default.
- W2912294431 creator A5077716269 @default.
- W2912294431 creator A5081952103 @default.
- W2912294431 date "2019-02-04" @default.
- W2912294431 modified "2023-10-17" @default.
- W2912294431 title "New Case of Thyroid Hormone Resistance α Caused by a Mutation of THRA/TRα1" @default.
- W2912294431 cites W1951445306 @default.
- W2912294431 cites W1978781687 @default.
- W2912294431 cites W1986428182 @default.
- W2912294431 cites W1999204296 @default.
- W2912294431 cites W2100819712 @default.
- W2912294431 cites W2228152956 @default.
- W2912294431 cites W2287640117 @default.
- W2912294431 cites W2467089142 @default.
- W2912294431 cites W2598165711 @default.
- W2912294431 cites W2751223399 @default.
- W2912294431 cites W2772598674 @default.
- W2912294431 cites W2803532931 @default.
- W2912294431 cites W4210406638 @default.
- W2912294431 doi "https://doi.org/10.1210/js.2019-00011" @default.
- W2912294431 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6397419" @default.
- W2912294431 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30842990" @default.
- W2912294431 hasPublicationYear "2019" @default.
- W2912294431 type Work @default.
- W2912294431 sameAs 2912294431 @default.
- W2912294431 citedByCount "14" @default.
- W2912294431 countsByYear W29122944312019 @default.
- W2912294431 countsByYear W29122944312020 @default.
- W2912294431 countsByYear W29122944312021 @default.
- W2912294431 countsByYear W29122944312022 @default.
- W2912294431 countsByYear W29122944312023 @default.
- W2912294431 crossrefType "journal-article" @default.
- W2912294431 hasAuthorship W2912294431A5033219430 @default.
- W2912294431 hasAuthorship W2912294431A5039832836 @default.
- W2912294431 hasAuthorship W2912294431A5044073539 @default.
- W2912294431 hasAuthorship W2912294431A5046341345 @default.
- W2912294431 hasAuthorship W2912294431A5053047351 @default.
- W2912294431 hasAuthorship W2912294431A5055826574 @default.
- W2912294431 hasAuthorship W2912294431A5064820931 @default.
- W2912294431 hasAuthorship W2912294431A5077716269 @default.
- W2912294431 hasAuthorship W2912294431A5081952103 @default.
- W2912294431 hasBestOaLocation W29122944311 @default.
- W2912294431 hasConcept C104317684 @default.
- W2912294431 hasConcept C134018914 @default.
- W2912294431 hasConcept C16671776 @default.
- W2912294431 hasConcept C180754005 @default.
- W2912294431 hasConcept C20580545 @default.
- W2912294431 hasConcept C2777871287 @default.
- W2912294431 hasConcept C501734568 @default.
- W2912294431 hasConcept C526584372 @default.
- W2912294431 hasConcept C54355233 @default.
- W2912294431 hasConcept C71315377 @default.
- W2912294431 hasConcept C71924100 @default.
- W2912294431 hasConcept C86803240 @default.
- W2912294431 hasConceptScore W2912294431C104317684 @default.
- W2912294431 hasConceptScore W2912294431C134018914 @default.
- W2912294431 hasConceptScore W2912294431C16671776 @default.
- W2912294431 hasConceptScore W2912294431C180754005 @default.
- W2912294431 hasConceptScore W2912294431C20580545 @default.
- W2912294431 hasConceptScore W2912294431C2777871287 @default.
- W2912294431 hasConceptScore W2912294431C501734568 @default.
- W2912294431 hasConceptScore W2912294431C526584372 @default.
- W2912294431 hasConceptScore W2912294431C54355233 @default.
- W2912294431 hasConceptScore W2912294431C71315377 @default.
- W2912294431 hasConceptScore W2912294431C71924100 @default.
- W2912294431 hasConceptScore W2912294431C86803240 @default.
- W2912294431 hasIssue "3" @default.
- W2912294431 hasLocation W29122944311 @default.
- W2912294431 hasLocation W29122944312 @default.
- W2912294431 hasLocation W29122944313 @default.
- W2912294431 hasLocation W29122944314 @default.
- W2912294431 hasLocation W29122944315 @default.
- W2912294431 hasLocation W29122944316 @default.
- W2912294431 hasOpenAccess W2912294431 @default.
- W2912294431 hasPrimaryLocation W29122944311 @default.
- W2912294431 hasRelatedWork W1867987620 @default.
- W2912294431 hasRelatedWork W1975253683 @default.
- W2912294431 hasRelatedWork W1982337721 @default.
- W2912294431 hasRelatedWork W1988517967 @default.
- W2912294431 hasRelatedWork W2057739827 @default.
- W2912294431 hasRelatedWork W2070922469 @default.
- W2912294431 hasRelatedWork W2153558019 @default.
- W2912294431 hasRelatedWork W2223919059 @default.
- W2912294431 hasRelatedWork W2348537836 @default.
- W2912294431 hasRelatedWork W3165452661 @default.
- W2912294431 hasVolume "3" @default.
- W2912294431 isParatext "false" @default.
- W2912294431 isRetracted "false" @default.
- W2912294431 magId "2912294431" @default.
- W2912294431 workType "article" @default.