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Ataluren treatment of patients with nonsense mutation dystrophinopathy.

Bushby, Katharine (author)
Finkel, Richard (author)
Wong, Brenda (author)
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Barohn, Richard (author)
Campbell, Craig (author)
Comi, Giacomo P (author)
Connolly, Anne M (author)
Day, John W (author)
Flanigan, Kevin M (author)
Goemans, Nathalie (author)
Jones, Kristi J (author)
Mercuri, Eugenio (author)
Quinlivan, Ros (author)
Renfroe, James B (author)
Russman, Barry (author)
Ryan, Monique M (author)
Tulinius, Mar, 1953 (author)
Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics
Voit, Thomas (author)
Moore, Steven A (author)
Lee Sweeney, H (author)
Abresch, Richard T (author)
Coleman, Kim L (author)
Eagle, Michelle (author)
Florence, Julaine (author)
Gappmaier, Eduard (author)
Glanzman, Allan M (author)
Henricson, Erik (author)
Barth, Jay (author)
Elfring, Gary L (author)
Reha, Allen (author)
Spiegel, Robert J (author)
O'donnell, Michael W (author)
Peltz, Stuart W (author)
McDonald, Craig M (author)
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 (creator_code:org_t)
2014-09-22
2014
English.
In: Muscle & nerve. - : Wiley. - 1097-4598 .- 0148-639X. ; 50:4, s. 477-87
  • Journal article (peer-reviewed)
Abstract Subject headings
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  • Dystrophinopathy is a rare, severe muscle disorder, and nonsense mutations are found in 13% of cases. Ataluren was developed to enable ribosomal readthrough of premature stop codons in nonsense mutation (nm) genetic disorders.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Pediatrik (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Pediatrics (hsv//eng)

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