GNPTAB c.2404C > T nonsense mutation in a patient with mucolipidosis III alpha/beta: a case report
Abstract Background Mucolipidosis alpha/beta is an inborn error of metabolism characterized by deficiency of GlcNAc-1-phosphotransferase, in which essential alpha/beta subunits are encoded by the GNPTAB gene. The autosomal recessive condition is due to disruptions of hydrolase mannose 6-phosphate ma...
| Автори: | , , , |
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| Формат: | Стаття |
| Мова: | English |
| Опубліковано: |
BMC
2018-09-01
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| Серія: | BMC Medical Genetics |
| Предмети: | |
| Онлайн доступ: | http://link.springer.com/article/10.1186/s12881-018-0679-5 |