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8 results
  1. Resources for Genetics Professionals — Genetic Disorders Caused by Nucleotide Repeat Expansions and Contractions - ... 
    https://www.ncbi.nlm.nih.gov/books/NBK535148
    ... tubulointerstitial kidney disease, MUC1 -related ~88% C 8 ORF 7 8 NOP56 Spinocerebellar ataxia type 36 100% ... 2010 ]. aa = amino acid; ALS = amyotrophic lateral sclerosis; ORF = open reading frame ; UTR = untranslated region 1. For ...
  2. Spinocerebellar Ataxia Type 8 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1268
    ... untranslated region of ATXN8OS and a short polyglutamine ORF in the more recently identified overlapping gene ATXN8 [ ... an untranslated portion of ATXN8OS and a short ORF for ATXN8 Testing Strategy To Confirm/Establish the ...
  3. Autosomal recessive spastic ataxia of Charlevoix-Saguenay: MedlinePlus Genetics 
    https://medlineplus.gov/...ive-spastic-ataxia-of-charlevoix-saguenay
    ... a new gene encoding an 11.5-kb ORF. Nat Genet. 2000 Feb;24(2):120-5. ...
  4. Rotor Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK114805
    ... 21303509delCAins No SLCO1B proteins formed due to lacking ORFs Large digenic deletion [ van de Steeg et al ...
  5. SACS gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/sacs
    ... a new gene encoding an 11.5-kb ORF. Nat Genet. 2000 Feb;24(2):120-5. ...
  6. ARSACS - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1255
    ... a new gene encoding an 11.5-kb ORF. Nat Genet. 2000; 24 :120–5. [ PubMed : 10655055 ] ...
  7. Usher Syndrome Type II - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1341
    ... novel exons were subsequently identified, with the longest ORF extending from exon 2 to 72 ( NM_206933. ...
  8. Mucopolysaccharidosis Type I - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1162
    ... with 14 exons; the cDNA open reading frame (ORF) is about 2 kb [ Scott et al 1995 ]. ...