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Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency

✍ Scribed by E Quintana; L Gort; C Busquets; A Navarro-Sastre; W Lissens; S Moliner; M Lluch; MA Vilaseca; L De Meirleir; A Ribes; P Briones; PDH Working Group

Book ID
110888927
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
620 KB
Volume
77
Category
Article
ISSN
0009-9163

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Mutation analysis of the pyruvate dehydr
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✍ Willy Lissens; Linda De Meirleir; Sara Seneca; Chantal Benelli; CΓ©cile Marsac; B πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 598 KB

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