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Novel types of mutation in the choroideremia (CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon

José A. J. M. van den Hurk; Dorien J. R. van de Pol; Bernd Wissinger; Marc A. van Driel; Lies H. Hoefsloot; Ilse J. de Wijs; L. Ingeborgh van den Born; John R. Heckenlively; Han G. Brunner; Eberhart Zrenner; Hans-Hilger Ropers; Frans P. M. Cremers
Human Genetics · Vol. 113, Issue 3 · pp. 268-275 · 2003

Abstract

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Bibliographic Information

JournalHuman Genetics
PublisherSpringer
Publication Date2003-08-01
Publication Year2003
Volume113
Issue3
Pages268-275
Document TypeJournal Article
Print ISSN0340-6717
eISSN1432-1203
DOI10.1007/s00439-003-0970-0

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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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