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
Enrichment of the R77C α-sarcoglycan gene mutation in finnish LGMD2D patients
✍ Scribed by P. Hackman; V. Juvonen; J. Sarparanta; M. Penttinen; T. Äärimaa; M. Uusitalo; M. Auranen; H. Pihko; R. Alén; M. Junes; T. Lönnqvist; H. Kalimo; B. Udd
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 146 KB
- Volume
- 31
- Category
- Article
- ISSN
- 0148-639X
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