Detection of a Frequent Duplicated CYP21A2 Gene Carrying a Q318X Mutation in a General Population With Quantitative PCR Methods

Earlier we had reported a large prevalence of the Q318X mutation in the CYP21A2 gene with 35.3% in Tunisian patients with a classical form of 21-hydroxylase deficiency, in contrast with 0.5% to 13.8% as described in other populations. Here we present the analysis of the Q318X mutation in a healthy T...

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Veröffentlicht in:Diagnostic molecular pathology 2011-06, Vol.20 (2), p.123-127
Hauptverfasser: Kharrat, Maher, Riahi, Awatef, Maazoul, Faouzi, Mʼrad, Ridha, Chaabouni, Habiba
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Sprache:eng
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