Congenital myopathy is caused by mutation of HACD1-Reference-Cited by-同舟云学术

Congenital myopathy is caused by mutation of HACD1

Published:2013-08-09 Issue:25 Volume:22 Page:5229-5236
ISSN:1460-2083
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Muhammad Emad,Reish Orit,Ohno Yusuke,Scheetz Todd,DeLuca Adam,Searby Charles,Regev Miriam,Benyamini Lilach,Fellig Yakov,Kihara Akio,Sheffield Val C.,Parvari Ruti

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/22/25/5229/14140470/ddt380.pdf

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4. SINE Exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopathy in dogs;Pelé;Hum. Mol. Genet.,2005

5. Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics;Maquat;Nat. Rev. Mol. Cell Biol.,2004

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