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Mutation analyses in 17 patients with deficiency in acid β-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B

Eduard Paschke; Ivica Milos; Heidemarie Kreimer-Erlacher; Gerald Hoefler; Michael Beck; Maria Hoeltzenbein; Wim Kleijer; Thierry Levade; Helen Michelakakis; Radeva B.
Human Genetics · Vol. 109, Issue 2 · pp. 159-166 · 2001

Abstract

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Bibliographic Information

JournalHuman Genetics
PublisherSpringer
Publication Date2001-08-01
Publication Year2001
Volume109
Issue2
Pages159-166
Document TypeJournal Article
Print ISSN0340-6717
eISSN1432-1203
DOI10.1007/s004390100570

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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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