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High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency).
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Document type | Article de périodique (Journal article) |
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Access type | Accès libre |
Publication date | 2001 |
Language | Anglais |
Journal information | "American Journal of Human Genetics" - Vol. 68, no.2, p. 347-54 (2001) |
Peer reviewed | yes |
Publisher | Cell Press ((United States) Cambridge) |
issn | 0002-9297 |
e-issn | 1537-6605 |
Publication status | Publié |
Affiliations |
UCL
- SSS/DDUV - Institut de Duve UCL - MD/BICL - Département de biochimie et de biologie cellulaire |
MESH Subject | Amino Acid Sequence ; Genotype ; Humans ; Male ; Molecular Sequence Data ; Mutation ; Phenotype ; Phosphotransferases (Phosphomutases) ; Amino Acid Substitution ; Base Sequence ; Congenital Disorders of Glycosylation ; DNA ; DNA Mutational Analysis ; Female ; Fibroblasts ; Gene Expression Regulation, Enzymologic |
Links |
Bibliographic reference | Grünewald, S ; Schollen, E ; Van Schaftingen, Emile ; Jaeken, J ; Matthijs, G. High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency).. In: American Journal of Human Genetics, Vol. 68, no.2, p. 347-54 (2001) |
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Permanent URL | http://hdl.handle.net/2078.1/131948 |