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Mutations in the gene for the E1β subunit: a novel cause of pyruvate dehydrogenase deficiency

✍ Scribed by Ruth M. Brown; Rosemary A. Head; Ivan I. Boubriak; James V. Leonard; Neil H. Thomas; Garry K. Brown

Publisher
Springer
Year
2004
Tongue
English
Weight
163 KB
Volume
115
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