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Somatic mosaicism for aPDHA1mutation in a female with pyruvate dehydrogenase deficiency

✍ Scribed by Cheryl K. Ridout; Ruth M. Brown; John H. Walter; Garry K. Brown


Publisher
Springer
Year
2008
Tongue
English
Weight
439 KB
Volume
124
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