Clinical and whole-exome sequencing findings in two siblings from Hani ethnic minority with congenital glycosylation disorders
Abstract Background PMM2-CDG, is the most common N-linked glycosylation disorder and subtype among all CDG syndromes, which are a series of genetic disorders involving the synthesis and attachment of glycoproteins and glycolipid glycans. The mutations of PMM2-CDG might lead to the loss of PMM2, whic...
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| Main Authors: | , , , , |
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| Format: | Book |
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BMC,
2019-11-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |