Link to the Reference Paper. The accession number of this mRNA is U46024 .
The following files contain the results of information analyses of mutations confirmed or predicted to result in mRNA splicing mutations in MTM1.
These include potential cryptic splice sites.

Donor: sites found that alter the information content of donorsites

Acceptor: sites found that alter the information content of acceptor sites

Unparsable Inconsistencies between the described mutation and the human genome reference sequence, "presently not posted"

Total: sites found that alter the information ocontent of both acceptor and donor sites are listed according to the mutation

Original: : Original Mutation Table

 References:

 

 14 HERMAN ET AL. HUMAN MUTATION 19:114121 (2002)

 

 RESEARCH ARTICLE:

 

 Characterization of Mutations in Fifty North American Patients With X-linked Myotubular Myopathy

 Gail E. Herman,1* Kevin Kopacz,1 Wei Zhao,1 Patti L. Mills,2 Aida Metzenberg,3 and Soma Das2

 1 Childrenís Research Institute and the Department of Pediatrics, The Ohio State University, Columbus, Ohio

 2 Department of Human Genetics, University of Chicago, Chicago, Illinois

 3 Department of Biology, California State University, Northridge, California

 Communicated by Jean-Louis Mandel

 

 

 

 

 

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