A PMM2-CDG caused by an A108V mutation associated with a heterozygous 70 kilobases deletion case report
Abstract Background Congenital Disorders of Glycosylation (CDG) are a large group of inborn errors of metabolism with more than 140 different CDG types reported to date (1). The first characterized, PMM2-CDG, with an autosomal recessive transmission, is also the most frequent. The PMM2 gene encodes...
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| Main Authors: | , , , , , , |
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| Format: | Book |
| Published: |
BMC,
2022-10-01T00:00:00Z.
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