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A novel intronic mutation of the TAZ ( G4.5 ) gene in a patient with Barth syndrome: creation of a 5' splice donor site with variant GC consensus and elongation of the upstream exon

Osamu Sakamoto, Toshihiro Ohura, Yuriko Katsushima, Ikuma Fujiwara, Eishin Ogawa, Shigeaki Miyabayashi, Kazuie Iinuma

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Key concepts: Biology, Exon, RNA splicing, Genetics, Splice site mutation, splice, Gene, Intron

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A novel intronic mutation of the TAZ ( G4.5 ) gene in a patient with Barth syndrome: creation of a 5' splice donor site with variant GC consensus and elongation of the upstream exon — Research Paper | ScholarLens