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...

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Detaylı Bibliyografya
Asıl Yazarlar: Schleutker, J, Sistonen, P, Aula, P
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 1996
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051809/
https://ncbi.nlm.nih.gov/pubmed/8825046
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