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...
| Main Authors: | , , , , , , |
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| פורמט: | Article |
| שפה: | English |
| יצא לאור: |
SpringerOpen
2024-01-01
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| סדרה: | Egyptian Journal of Medical Human Genetics |
| נושאים: | |
| גישה מקוונת: | https://doi.org/10.1186/s43042-023-00469-z |