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Kim, Jinkuk; Hu, Chunguang; Moufawad El Achkar, Christelle; Black, Lauren E; Douville, Julie; Larson, Austin; Pendergast, Mary K; Goldkind, Sara F; Lee, Eunjung A; Kuniholm, Ashley; Soucy, Aubrie; Vaze, Jai; Belur, Nandkishore R; Fredriksen, Kristina; Stojkovska, Iva; Tsytsykova, Alla; Armant, Myriam; DiDonato, Renata L; Choi, Jaejoon; Cornelissen, Laura; Pereira, Luis M; Augustine, Erika F; Genetti, Casie A; Dies, Kira; Barton, Brenda; Williams, Lucinda; Goodlett, Benjamin D; Riley, Bobbie L; Pasternak, Amy; Berry, Emily R; Pflock, Kelly A; Chu, Stephen; Reed, Chantal; Tyndall, Kimberly; Agrawal, Pankaj B; Beggs, Alan H; Grant, P. Ellen; Urion, David K; Snyder, Richard O; Waisbren, Susan E; Poduri, Annapurna; Park, Peter J; Patterson, Al; Biffi, Alessandra; Mazzulli, Joseph R; Bodamer, Olaf; Berde, Charles B; Yu, Timothy W
New England journal of medicine/The New England journal of medicine, 10/2019, Letnik: 381, Številka: 17Journal Article
A child with a neuronal ceroid lipofuscinosis was found to carry loss-of-function mutations in the gene MFSD8 ( CLN7 ). A year after genetic diagnosis, the child began treatment with an oligonucleotide drug that was designed to correct the aberrant pre–messenger RNA splicing caused by one of these mutations.
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Dostop do baze podatkov JCR je dovoljen samo uporabnikom iz Slovenije. Vaš trenutni IP-naslov ni na seznamu dovoljenih za dostop, zato je potrebna avtentikacija z ustreznim računom AAI.
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JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
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Povezave do osebnih bibliografij avtorjev | Povezave do podatkov o raziskovalcih v sistemu SICRIS |
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Vir: Osebne bibliografije
in: SICRIS
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