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Identification of point mutations in the steroid sulfatase gene of three patients with X-linked ichthyosis.

X-linked ichthyosis (XLI) is an inborn error of metabolism caused by steroid sulfatase (STS) deficiency. In more than 80% of XLI patients the enzyme deficiency is due to large deletions involving the entire STS gene and flanking sequences. However, some patients with the classical XLI phenotype and...

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Bibliografiske detaljer
Main Authors: Basler, E, Grompe, M, Parenti, G, Yates, J, Ballabio, A
Format: Artigo
Sprog:Inglês
Udgivet: 1992
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1684279/
https://ncbi.nlm.nih.gov/pubmed/1539590
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