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Variable clinical presentation in patients with defective E1 component of pyruvate dehydrogenase complex

✍ Scribed by Brian H. Robinson; Harriet MacMillan; Roumyana Petrova-Benedict; W. Geoffrey Sherwood


Book ID
119462443
Publisher
Elsevier Science
Year
1987
Tongue
English
Weight
663 KB
Volume
111
Category
Article
ISSN
1097-6833

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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