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Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1α deficiency

✍ Scribed by Cécile Marsac; Chantal Benelli; Isabelle Desguerre; Monique Diry; Françoise Fouque; L. De Meirleir; Gérard Ponsot; S. Seneca; Florence Poggi; Jean-Marie Saudubray; Marie-Thérèse Zabot; Daniel Fontan; Willy Lissens

Book ID
106136664
Publisher
Springer
Year
1997
Tongue
English
Weight
114 KB
Volume
99
Category
Article
ISSN
0340-6717

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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