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15 results
  1. 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- ...
  2. Dopa-responsive dystonia: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/dopa-responsive-dystonia
    ... Bitsch J, Zuker M, Hummel S, Muller U. Heterozygous mutation in 5'-untranslated region of sepiapterin reductase gene (SPR) in a patient ...
  3. SPR gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/spr
    ... Bitsch J, Zuker M, Hummel S, Muller U. Heterozygous mutation in 5'-untranslated region of sepiapterin reductase gene (SPR) in a patient ...
  4. 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 ...
  5. Anhidrotic ectodermal dysplasia with immune deficiency: MedlinePlus Genetics 
    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. ...
  6. Mitochondrial complex III deficiency: MedlinePlus Genetics 
    https://medlineplus.gov/.../mitochondrial-complex-iii-deficiency
    ... Martin MA, Seneca S, Arenas J, Ugalde C. Pathogenic mutations in the 5' untranslated region of BCS1L mRNA in mitochondrial complex III deficiency. ...
  7. BCS1L gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/bcs1l
    ... Martin MA, Seneca S, Arenas J, Ugalde C. Pathogenic mutations in the 5' untranslated region of BCS1L mRNA in mitochondrial complex III deficiency. ...
  8. SLC5A5 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/slc5a5
    ... Iodide transport defect: functional characterization of a novel mutation in the Na+/I- symporter 5'-untranslated region in a patient with congenital hypothyroidism. J Clin ...
  9. DCN gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/dcn
    ... discovery of two alternatively spliced exons in the 5' untranslated region, and ... frame shift mutation in a family with congenital stromal corneal dystrophy. ...
  10. Epidermolysis Bullosa with Pyloric Atresia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1157
    ... exon 1 as well as use of different 5' untranslated regions. At least ten other variant transcripts have been ... produced by alternative splicing and use of different 5' untranslated regions [ Rezniczek et al 2003 ]. Abnormal gene product . Loss ...
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