| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 5589962 | Gene Reports | 2017 | 4 Pages |
Abstract
A deleterious splice site mutation in AGL gene was identified in our patient and adds to many other previous reports and extends the spectrum of GSD IIIa. Such reports help confirm the diagnosis of the disease and to perform accurate genetic counselling for their family members.
Keywords
Related Topics
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Biochemistry, Genetics and Molecular Biology
Genetics
Authors
Amir Anushiravani, Mohammad Ali Faghihi, Hassan Dastsooz, Kamran B. Lankarani,