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Mutation of E1α gene in a female patient with pyruvate dehydrogenase deficiency due to rapid degradation of E1 protein

✍ Scribed by M. Ito; A. H. M. M. Huq; E. Naito; T. Saijo; E. Takeda; Y. Kuroda

Publisher
Springer
Year
1992
Tongue
English
Weight
885 KB
Volume
15
Category
Article
ISSN
0141-8955

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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