Journal Article

A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy

Laura Lucarini; Betti Giusti; Rui-Zhu Zhang; Te-Cheng Pan; Cecilia Jimenez-Mallebrera; Eugenio Mercuri; Francesco Muntoni; Guglielmina Pepe; Mon-Li Chu

Human Genetics · Vol. 117, Issue 5 · pp. 460-466 · 2005

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Bibliographic Information

Journal	Human Genetics
Publisher	Springer
Publication Date	2005-09-01
Publication Year	2005
Volume	117
Issue	5
Pages	460-466
Document Type	Journal Article
Print ISSN	0340-6717
eISSN	1432-1203
DOI	10.1007/s00439-005-1318-8

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NARA Access Coverage	1964-01-01~Current
Journal Homepage	https://www.springer.com/journal/439
Publisher Page	Open Publisher Page

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