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9 results
  1. 3-beta-hydroxysteroid dehydrogenase deficiency: MedlinePlus Genetics 
    https://medlineplus.gov/...a-hydroxysteroid-dehydrogenase-deficiency
    ... PubMed Pan Y, Zhong S, Hu RM, Gong W. Mutation of 3beta-hydroxysteroid dehydrogenase (3beta-HSD) at the 3'-untranslated region is associated with adrenocortical insufficiency. Mol Med Rep. ...
  2. F2 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/f2
    ... position 20210 (written G20210A or 20210G>A). This mutation, which occurs in a region of the gene called the 3' untranslated region, causes the gene to be overactive and leads ...
  3. FKTN gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/fktn
    ... has at least one copy of the same mutation, an insertion of about 3,000 extra DNA building blocks (3 kilobases [kb]) in the FKTN gene. This insertion occurs in a part of the gene known as the 3' untranslated region, which helps regulate the gene's activity. Researchers believe ...
  4. Myotonic Dystrophy Type 1 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1165
    ... that is expanded in DM1 lies in the 3' untranslated region of DMPK . Abnormal repeat lengths may reach several ... applicable 1. The CTG variant is in the 3' untranslated region of the gene (indicated by *), with the first ...
  5. Fukuyama Congenital Muscular Dystrophy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1206
    ... retrotransposon insertion of tandemly repeated sequences in the 3' untranslated region [ Kato et al 2004 ]. Asterisk denotes a variant ... Lin YY, Lefeber DJ, van Bokhoven H. Missense mutations in beta-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) ...
  6. Huntington Disease-Like 2 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1529
    ... encode polyalanine or polyleucine, or fall in the 3' untranslated region. The expression pattern and function of the exon ... Rudnicki D, Margolis R. Junctophilin 3 (JPH3) expansion mutations causing Huntington disease like 2 (HDL2) are common ...
  7. Spinocerebellar Ataxia Type 8 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1268
    ... the SCA8 phenotype is located in both the 3' untranslated region of ATXN8OS and a short polyglutamine ORF in ... Uitti RJ, Farrer MJ, Wszolek ZK. Sporadic SCA8 mutation resembling corticobasal degeneration. Parkinsonism Relat Disord. 2005; 11 : ...
  8. Spinocerebellar Ataxia Type 1 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1184
    ... 7805 bp, respectively. Both the 5' untranslated and 3' untranslated region of the ATXN1 transcript are extremely long at ... 2,3,6,7 and dentatorubral pallidoluysian atrophy mutations in Korean patients with spinocerebellar ataxia. J Neurol. ...
  9. Beta-Propeller Protein-Associated Neurodegeneration - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK424403
    ... X-exome analysis reveals a familial WDR45 missense mutation in 3 males with intellectual disability and brain ... Hayflick SJ. Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form ...