Intron retention is among six unreported AGL mutations identified in Malaysian GSD III patients
Background: Glycogen storage disease type III is an autosomal recessive disorder that is caused by deficiencies of the glycogen debranching enzyme. Mutations within the AGL gene have been found to be heterogeneous, with some common mutations being reported in certain populations. The mutation spectr...
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| Main Authors: | , , , , , , |
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| Format: | Article |
| Published: |
Springer Verlag (Germany)
2019
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| Subjects: | |
| Online Access: | http://eprints.um.edu.my/24262/ https://doi.org/10.1007/s13258-019-00815-9 |
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