Matches in SemOpenAlex for { <https://semopenalex.org/work/W2034143599> ?p ?o ?g. }
Showing items 1 to 84 of
84
with 100 items per page.
- W2034143599 endingPage "1146" @default.
- W2034143599 startingPage "1143" @default.
- W2034143599 abstract "Objective: Inherited thyroxine-binding globulin (TBG) deficiency is caused by mutations in the TBG gene (locus: Xq22.2), which result in defective synthesis or changes in the physical properties or biological function of a protein. Design: We report a novel mutation of the TBG gene causing a complete TBG deficiency in three brothers of Polish origin. DNA was extracted from all of the family members and subjected to sequence analysis. We analyzed the family with a heterozygous mother, a normal father, their three hemizygous affected sons, and their two normal sons. Main outcome: Our studies revealed a novel mutation, a single nucleotide deletion (guanine) at position 1711, codon 201 (Asp) in exon 2 (GAC → AC). This mutation led to a frame shift and premature termination at codon 206, causing a short TBG protein of 205 amino acids (AA) compared to 395 AA of the normal TBG. This new TBG-CD variant was found in the mother and her three affected sons. Conclusion: This is a new variant of TBG-CD (TBG-CD-PL Poland) containing 205 AA." @default.
- W2034143599 created "2016-06-24" @default.
- W2034143599 creator A5014370747 @default.
- W2034143599 creator A5021295769 @default.
- W2034143599 creator A5028625447 @default.
- W2034143599 creator A5049229112 @default.
- W2034143599 date "2007-11-01" @default.
- W2034143599 modified "2023-09-26" @default.
- W2034143599 title "A Novel Mutation (del 1711 G) in the<i>TBG</i>Gene as a Cause of Complete TBG Deficiency" @default.
- W2034143599 cites W1989219296 @default.
- W2034143599 cites W2004529983 @default.
- W2034143599 cites W2012891737 @default.
- W2034143599 cites W2017681394 @default.
- W2034143599 cites W2028587389 @default.
- W2034143599 cites W2032890482 @default.
- W2034143599 cites W2050262822 @default.
- W2034143599 cites W2054722981 @default.
- W2034143599 cites W2062669190 @default.
- W2034143599 cites W2085129939 @default.
- W2034143599 cites W2102198023 @default.
- W2034143599 cites W2124544015 @default.
- W2034143599 cites W2133230490 @default.
- W2034143599 cites W2150370879 @default.
- W2034143599 cites W2153856657 @default.
- W2034143599 cites W4239926391 @default.
- W2034143599 cites W4244244056 @default.
- W2034143599 cites W4253973441 @default.
- W2034143599 cites W4255244894 @default.
- W2034143599 doi "https://doi.org/10.1089/thy.2007.0023" @default.
- W2034143599 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/17887925" @default.
- W2034143599 hasPublicationYear "2007" @default.
- W2034143599 type Work @default.
- W2034143599 sameAs 2034143599 @default.
- W2034143599 citedByCount "9" @default.
- W2034143599 countsByYear W20341435992015 @default.
- W2034143599 countsByYear W20341435992016 @default.
- W2034143599 countsByYear W20341435992021 @default.
- W2034143599 countsByYear W20341435992022 @default.
- W2034143599 countsByYear W20341435992023 @default.
- W2034143599 crossrefType "journal-article" @default.
- W2034143599 hasAuthorship W2034143599A5014370747 @default.
- W2034143599 hasAuthorship W2034143599A5021295769 @default.
- W2034143599 hasAuthorship W2034143599A5028625447 @default.
- W2034143599 hasAuthorship W2034143599A5049229112 @default.
- W2034143599 hasConcept C104317684 @default.
- W2034143599 hasConcept C153911025 @default.
- W2034143599 hasConcept C2777239931 @default.
- W2034143599 hasConcept C2778288131 @default.
- W2034143599 hasConcept C36823959 @default.
- W2034143599 hasConcept C501734568 @default.
- W2034143599 hasConcept C526584372 @default.
- W2034143599 hasConcept C54355233 @default.
- W2034143599 hasConcept C86803240 @default.
- W2034143599 hasConceptScore W2034143599C104317684 @default.
- W2034143599 hasConceptScore W2034143599C153911025 @default.
- W2034143599 hasConceptScore W2034143599C2777239931 @default.
- W2034143599 hasConceptScore W2034143599C2778288131 @default.
- W2034143599 hasConceptScore W2034143599C36823959 @default.
- W2034143599 hasConceptScore W2034143599C501734568 @default.
- W2034143599 hasConceptScore W2034143599C526584372 @default.
- W2034143599 hasConceptScore W2034143599C54355233 @default.
- W2034143599 hasConceptScore W2034143599C86803240 @default.
- W2034143599 hasIssue "11" @default.
- W2034143599 hasLocation W20341435991 @default.
- W2034143599 hasLocation W20341435992 @default.
- W2034143599 hasOpenAccess W2034143599 @default.
- W2034143599 hasPrimaryLocation W20341435991 @default.
- W2034143599 hasRelatedWork W2025851750 @default.
- W2034143599 hasRelatedWork W2035919360 @default.
- W2034143599 hasRelatedWork W2059736436 @default.
- W2034143599 hasRelatedWork W2060169551 @default.
- W2034143599 hasRelatedWork W2068588654 @default.
- W2034143599 hasRelatedWork W2068932327 @default.
- W2034143599 hasRelatedWork W2090999728 @default.
- W2034143599 hasRelatedWork W2168467210 @default.
- W2034143599 hasRelatedWork W2384774992 @default.
- W2034143599 hasRelatedWork W2417766600 @default.
- W2034143599 hasVolume "17" @default.
- W2034143599 isParatext "false" @default.
- W2034143599 isRetracted "false" @default.
- W2034143599 magId "2034143599" @default.
- W2034143599 workType "article" @default.