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Two mutations remote from an exon/intron junction in the β-hexosaminidase β-subunit gene affect 3'-splice site selection and cause Sandhoff disease

Mutsuko Fujimaru; A. Tanaka; Kyuchul Choeh; Nobuaki Wakamatsu; Hitoshi Sakuraba; Gen Isshiki
Human Genetics · Vol. 103, Issue 4 · pp. 462-469 · 1998
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Bibliographic Information

JournalHuman Genetics
PublisherSpringer
Publication Date1998-11-17
Publication Year1998
Volume103
Issue4
Pages462-469
Document TypeJournal Article
Print ISSN0340-6717
eISSN1432-1203
DOI10.1007/s004390050851

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