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Improved molecular diagnostics for ornithine transcarbamylase deficiency.

Since the cloning of the cDNA for X-linked ornithine transcarbamylase (OTC) in 1984, diagnostic accuracy of OTC deficiency for prenatal and carrier detection has been greatly improved by the use of linkage analysis. However, the use of RFLP-based diagnosis is limited in this and in other new mutatio...

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Hlavní autoři: Grompe, M, Caskey, C T, Fenwick, R G
Médium: Artigo
Jazyk:Inglês
Vydáno: 1991
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683033/
https://ncbi.nlm.nih.gov/pubmed/1671317
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