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Refined localization of the pyruvate dehydrogenase E1α gene (PDHA1) by linkage analysis

✍ Scribed by A. D. Børglum; Tracey Flint; Lise Lotte Hansen; T. A. Kruse

Publisher
Springer
Year
1996
Tongue
English
Weight
84 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