Novel MTR compound-heterozygous mutations in a Chinese girl with HHcy due to methionine synthase deficiency, cblG: a case report
Abstract Background The methylcobalamin deficiency G (cblG) disorder, a rare autosomal recessive disease, is attributed to mutations in the MTR gene, resulting in heightened homocysteine levels and reduced methionine and megaloblastic anemia levels. This disease is predominantly diagnosed using MTR...
| المؤلفون الرئيسيون: | , , , , , , |
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| التنسيق: | مقال |
| اللغة: | English |
| منشور في: |
SpringerOpen
2024-01-01
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| سلاسل: | Egyptian Journal of Medical Human Genetics |
| الموضوعات: | |
| الوصول للمادة أونلاين: | https://doi.org/10.1186/s43042-023-00469-z |