Llwytho...
Haplotype analysis in prenatal diagnosis and carrier identification of Salla disease.
Salla disease (SD) is an autosomal recessive disorder in which free sialic acid (N-acetyl neuraminic acid) accumulates in lysosomes. A specific transport mechanism for acidic monosaccharides on the lysosomal membrane has recently been described, but the molecular deficiency causing SD is still unkno...
Wedi'i Gadw mewn:
| Prif Awduron: | , , |
|---|---|
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
1996
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| Pynciau: | |
| Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1051809/ https://ncbi.nlm.nih.gov/pubmed/8825046 |
| Tagiau: |
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