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A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity

Anna Diaz-Font; Bru Cormand; Raül Santamaria; Lluïsa Vilageliu; Daniel Grinberg; Amparo Chabás
Human Genetics · Vol. 117, Issue 2-3 · pp. 275-277 · 2005
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Bibliographic Information

JournalHuman Genetics
PublisherSpringer
Publication Date2005-07-01
Publication Year2005
Volume117
Issue2-3
Pages275-277
Document TypeJournal Article
Print ISSN0340-6717
eISSN1432-1203
DOI10.1007/s00439-005-1288-x

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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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