Welander Distal Myopathy Caused by an Ancient Founder Mutation inTIA1Associated with Perturbed Splicing-Reference-Cited by-同舟云学术

Welander Distal Myopathy Caused by an Ancient Founder Mutation inTIA1Associated with Perturbed Splicing

Published:2013-01 Issue: Volume: Page:n/a-n/a
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:HUMAN MUTATION

Author:

Klar Joakim¹,Sobol Maria¹,Melberg Atle²,Mäbert Katrin¹,Ameur Adam¹,Johansson Anna C.V.¹,Feuk Lars¹,Entesarian Miriam³,Örlén Hanna¹,Casar-Borota Olivera¹,Dahl Niklas¹

Affiliation:

1. Department of Immunology, Genetics and Pathology; The Rudbeck Laboratory and Science for Life Laboratory, Uppsala University; 751 85; Uppsala; Sweden

2. Department of Neuroscience; Neurology, Uppsala University; 751 85; Uppsala; Sweden

3. Department of Women's and Children's Health; Center for Molecular Medicine, Karolinska University Hospital; Stockholm

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22282/fullpdf

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