A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic
Author:
Publisher
Proceedings of the National Academy of Sciences
Subject
Multidisciplinary
Reference24 articles.
1. The carbohydrate-deficient glycoprotein syndromes: pre-Golgi and Golgi disorders?
2. Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13 in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)
3. Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy.
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