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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
Human Genetics · Vol. 109, Issue 5 · pp. 559-563 · 2001
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Bibliographic Information

JournalHuman Genetics
PublisherSpringer
Publication Date2001-11-01
Publication Year2001
Volume109
Issue5
Pages559-563
Document TypeJournal Article
Print ISSN0340-6717
eISSN1432-1203
DOI10.1007/s00439-001-0612-3

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NARA Access Coverage1964-01-01~Current
Journal Homepagehttps://www.springer.com/journal/439
Publisher PageOpen Publisher Page
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