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Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A.
Carbohydrate-deficient-glycoprotein syndrome type 1 (CDG1; also known as "Jaeken syndrome") is an autosomal recessive disorder characterized by defective glycosylation. Most patients show a deficiency of phosphomannomutase (PMM), the enzyme that converts mannose 6-phosphate to mannose 1-ph...
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| Main Authors: | , , , , |
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| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe: |
1998
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| Ábhair: | |
| Rochtain Ar Líne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1376957/ https://ncbi.nlm.nih.gov/pubmed/9497260 |
| Clibeanna: |
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