A novel compound heterozygous variant identified in GLDC gene in a Chinese family with non-ketotic hyperglycinemia
Abstract Background Non-ketotic hyperglycinemia (NKH) is a rare, devastating autosomal recessive disorder of glycine metabolism with a very poor prognosis. Currently, few studies have reported genetic profiling of Chinese NKH patients. This study aimed to identify the genetic mutations in a Chinese...
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| Main Authors: | , , , |
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| Format: | Book |
| Published: |
BMC,
2018-01-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |