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  1. GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1508
    ... J, Zuker M, Hummel S, Müller U. Heterozygous mutation in 5'-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia. Neurogenetics. ... in expressivity of GCH1 mutations in five families with dopa-responsive dystonia. Ann ...
  2. Sepiapterin Reductase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK304122
    ... J, Zuker M, Hummel S, Muller U. Heterozygous mutation in 5'-untranslated region of sepiapterin reductase gene (SPR) in a patient ...
  3. Genetics of Breast and Gynecologic Cancers (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65767
    ... et al.: A single nucleotide polymorphism in the 5' untranslated region of RAD51 and risk of cancer among BRCA1/2 mutation carriers. Cancer Epidemiol Biomarkers Prev 10 (9): 955- ...
  4. Marinesco-Sjögren Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1192
    ... syndrome in an Emirati child with a novel mutation in SIL1 affecting the 5' untranslated region. Med Princ Pract. 2016;25:580–2. [ PMC free article : PMC5588509 ] [ PubMed : ... Bernard G, Rouleau GA, et al. Novel SIL1 mutations cause cerebellar ataxia and atrophy in a French- ...
  5. MeSH Coming Attractions. NLM Technical Bulletin. Sep-Oct 1998 
    https://www.nlm.nih.gov/pubs/techbull/so98/so98_mesh.html
    ... Terminal Repeat Sequences Untranslated Regions 3' Untranslated Regions 5' Untranslated Regions Amino Acid Sequence: Catalytic Domain Repetitive Sequences, Amino Acid Mutation: Base Pair Mismatch Mutation, Missense Others: Chromosome Segregation ...
  6. CDKL5 Deficiency Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK602610
    ... the subscription-based professional view of Human Gene Mutation Database [ Stenson et al 2020 ] 5. Intronic CDKL5 missense pathogenic variants associated with abnormal splicing [ Olson et al 2019 ] and rare disease-associated deletions in the 5' untranslated region have been reported [ Nemos et al 2009 , Bahi- ...
  7. SPR gene 
    https://medlineplus.gov/genetics/gene/spr
    ... J, Zuker M, Hummel S, Muller U. Heterozygous mutation in 5'-untranslated region of sepiapterin reductase gene (SPR) in a patient ...
  8. Dopa-responsive dystonia 
    https://medlineplus.gov/genetics/condition/dopa-responsive-dystonia
    ... J, Zuker M, Hummel S, Muller U. Heterozygous mutation in 5'-untranslated region of sepiapterin reductase gene (SPR) in a patient ...
  9. Anhidrotic ectodermal dysplasia with immune deficiency 
    https://medlineplus.gov/...todermal-dysplasia-with-immune-deficiency
    ... factor-kappaB essential modifier (NEMO) because of a mutation in the 5' untranslated region of the NEMO gene. J Allergy Clin Immunol. ...
  10. Mitochondrial complex III deficiency 
    https://medlineplus.gov/.../mitochondrial-complex-iii-deficiency
    ... MA, Seneca S, Arenas J, Ugalde C. Pathogenic mutations in the 5' untranslated region of BCS1L mRNA in mitochondrial complex III deficiency. ...
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