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Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain development.

Carbohydrate-deficient glycoprotein syndrome (CDGS) type II is a multisystemic congenital disease with severe involvement of the nervous system. Two unrelated CDGS type II patients are shown to have point mutations (one patient having Ser-->Phe and the other having His-->Arg) in the catalytic...

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Detaylı Bibliyografya
Asıl Yazarlar: Tan, J., Dunn, J., Jaeken, J., Schachter, H.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 1996
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC1914797/
https://ncbi.nlm.nih.gov/pubmed/8808595
Etiketler: Etiketle
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