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Oculopharyngeal muscular dystrophy (OPMD): analysis of the PABPN1 gene expansion sequence in 86 patients reveals 13 different expansion types and further evidence for unequal recombination as the mutational mechanism

David O. Robinson; Simon R. Hammans; Steven P. Read; Julie Sillibourne
Human Genetics · Vol. 116, Issue 4 · pp. 267-271 · 2005
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Bibliographic Information

JournalHuman Genetics
PublisherSpringer
Publication Date2005-03-01
Publication Year2005
Volume116
Issue4
Pages267-271
Document TypeJournal Article
Print ISSN0340-6717
eISSN1432-1203
DOI10.1007/s00439-004-1235-2

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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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