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Pyruvate dehydrogenase deficiency caused by a new mutation of PDHX gene in two Moroccan patients

✍ Scribed by Tajir, Mariam; Arnoux, Jean Baptiste; Boutron, Audrey; Elalaoui, Siham Chafai; De Lonlay, Pascale; Sefiani, Abdelaziz; Brivet, Michèle

Book ID
123091949
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
133 KB
Volume
55
Category
Article
ISSN
1769-7212

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Most of the mutations causing deficiency of the pyruvate dehydrogenase (PDH) complex are in the X-linked E,a gene. We have developed a rapid screening method for the detection of mutations in this gene using reverse transcription of total RNA, polymerase chain reaction amplification of the whole cod