A Splice Site Mutation in Laminin-α2 Results in a Severe Muscular Dystrophy and Growth Abnormalities in Zebrafish

Vandana A. Gupta; Genri Kawahara; Jennifer A. Myers; Aye T. Chen; Thomas E. Hall; M. Chiara Manzini; Peter D. Currie; Yi Zhou; Leonard I. Zon; Louis M. Kunkel; Alan H. Beggs

doi:10.1371/journal.pone.0043794

Loading metrics

Open Access

Peer-reviewed

Research Article

A Splice Site Mutation in Laminin-α2 Results in a Severe Muscular Dystrophy and Growth Abnormalities in Zebrafish

Vandana A. Gupta,

Affiliation Genomics Program and Division of Genetics, Boston Children’s Hospital, Harvard Medical School, The Manton Center for Orphan Disease Research, Boston, Massachusetts, United States of America
⨯
Genri Kawahara,

Affiliation Genomics Program and Division of Genetics, Boston Children’s Hospital, Harvard Medical School, The Manton Center for Orphan Disease Research, Boston, Massachusetts, United States of America
⨯
Jennifer A. Myers,

Affiliation Genomics Program and Division of Genetics, Boston Children’s Hospital, Harvard Medical School, The Manton Center for Orphan Disease Research, Boston, Massachusetts, United States of America
⨯
Aye T. Chen,

Affiliation Stem Cell Program and Pediatric Hematology/Oncology, Boston Children’s Hospital and Dana Farber Cancer Institute, Harvard Stem Cell Institute, Harvard Medical School, Boston, Massachusetts, United States of America
⨯
Thomas E. Hall,

Affiliation Australian Regenerative Medicine Institute, Monash University, Clayton Campus, Victoria, Australia
⨯
M. Chiara Manzini,

Affiliation Genomics Program and Division of Genetics, Boston Children’s Hospital, Harvard Medical School, The Manton Center for Orphan Disease Research, Boston, Massachusetts, United States of America
⨯
Peter D. Currie,

Affiliation Australian Regenerative Medicine Institute, Monash University, Clayton Campus, Victoria, Australia
⨯
Yi Zhou,

Affiliation Stem Cell Program and Pediatric Hematology/Oncology, Boston Children’s Hospital and Dana Farber Cancer Institute, Harvard Stem Cell Institute, Harvard Medical School, Boston, Massachusetts, United States of America
⨯
Leonard I. Zon,

Affiliations Stem Cell Program and Pediatric Hematology/Oncology, Boston Children’s Hospital and Dana Farber Cancer Institute, Harvard Stem Cell Institute, Harvard Medical School, Boston, Massachusetts, United States of America, Howard Hughes Medical Institute, San Francisco, California, United States of America
⨯
Louis M. Kunkel,

Affiliation Genomics Program and Division of Genetics, Boston Children’s Hospital, Harvard Medical School, The Manton Center for Orphan Disease Research, Boston, Massachusetts, United States of America
⨯
Alan H. Beggs

* E-mail: beggs@enders.tch.harvard.edu

Affiliation Genomics Program and Division of Genetics, Boston Children’s Hospital, Harvard Medical School, The Manton Center for Orphan Disease Research, Boston, Massachusetts, United States of America
⨯

A Splice Site Mutation in Laminin-α2 Results in a Severe Muscular Dystrophy and Growth Abnormalities in Zebrafish

Vandana A. Gupta,
Genri Kawahara,
Jennifer A. Myers,
Aye T. Chen,
Thomas E. Hall,
M. Chiara Manzini,
Peter D. Currie,
Yi Zhou,
Leonard I. Zon,
Louis M. Kunkel

Published: August 27, 2012
https://doi.org/10.1371/journal.pone.0043794

Reader Comments (0)

Post a new comment on this article

Subject Areas
?

For more information about PLOS Subject Areas, click here.
We want your feedback. Do these Subject Areas make sense for this article? Click the target next to the incorrect Subject Area and let us know. Thanks for your help!

Zebrafish
Is the Subject Area "Zebrafish" applicable to this article?

Thanks for your feedback.
Skeletal muscles
Is the Subject Area "Skeletal muscles" applicable to this article?

Thanks for your feedback.
Muscle proteins
Is the Subject Area "Muscle proteins" applicable to this article?

Thanks for your feedback.
Muscular dystrophies
Is the Subject Area "Muscular dystrophies" applicable to this article?

Thanks for your feedback.
Embryos
Is the Subject Area "Embryos" applicable to this article?

Thanks for your feedback.
Mouse models
Is the Subject Area "Mouse models" applicable to this article?

Thanks for your feedback.
Mutation
Is the Subject Area "Mutation" applicable to this article?

Thanks for your feedback.
Nonsense mutation
Is the Subject Area "Nonsense mutation" applicable to this article?

Thanks for your feedback.