No abstract is available for this paper.
A splicing mutation in the α/β GlcNAc‐1‐phosphotransferase gene results in an adult onset form of mucolipidosis III associated with sensory neuropathy and cardiomyopathy
R. Steet,R. Hullin,M. Kudo,M. Martinelli,N. Bosshard,T. Schaffner,S. Kornfeld,B. Steinmann
Published 2005 in American Journal of Medical Genetics Part A
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- Publication year
2005
- Venue
American Journal of Medical Genetics Part A
- Publication date
2005-02-01
- Fields of study
Biology, Medicine
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