Complete deletion of ornithine transcarbamylase gene confirmed by CGH array of X chromosome

Abstract

Ornithine transcarbamylase deficiency is an X-linked semidominant trait that is the most frequent inborn error of the urea cycle. Three hundred and fifty different mutations, including mostly point mutations and a small proportion of large rearrangements have been reported. Conventional molecular diagnosis is highly reliable for point mutations but can miss… (More)
DOI: 10.1007/s10545-007-0578-y

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