✦ LIBER ✦
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
✍ Scribed by Richard A. Steet; Roger Hullin; Mariko Kudo; Michele Martinelli; Nils U. Bosshard; Thomas Schaffner; Stuart Kornfeld; Beat Steinmann
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 256 KB
- Volume
- 132A
- Category
- Article
- ISSN
- 1552-4825
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