deep intronic mutation

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1
A deep intronic mutation of c.1166-285 T > G in SLC46A1 is shared by four unrelated Japanese patients with hereditary folate malabsorption (HFM).
Tozawa, Yusuke;Abdrabou, Shimaa Said Mohamed Ali;Nogawa-Chida, Natsuko;Nishiuchi, Ritsuo;Ishida, Tos...
2019 clinical immunology (orlando, fla) DOI: S1521-6616(19)30241-... 259 views
2
antisense oligonucleotide mediated splice correction of a deep intronic mutation in opa1
;Tobias Bonifert;Irene Gonzalez Menendez;Florian Battke;Yvonne Theurer;Matthis Synofzik;Ludger Schöl...
2016 coordination chemistry reviews DOI: 10.1038/mtna.2016.93 155 views

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clinical immunology (orlando, fla)
ISSN: 1521-7035 479 views

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hereditary folate malabsorption (hfm) megaloblastic anemia proton-coupled folate transporter (pcft) slc46a1 antisense oligonucleotides opa1 pharmacology splice correctiontherapeutics