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Identification of a Gene for the Pyruvate Dehydrogenase E1α Subunit with a Deletion of Four Nucleotides from a Patient with Pyruvate Dehydrogenase Complex Deficiency

✍ Scribed by HITOSHI ENDO; KIYOSHI HASEGAWA; KUNIAKI NARISAWA; KEIYA TADA; YASUO KAGAWA; SHIGEO OHTA

Book ID
119862711
Publisher
John Wiley and Sons
Year
1989
Tongue
English
Weight
187 KB
Volume
573
Category
Article
ISSN
0890-6564

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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