The PMM2 gene, which is defective in CDG-Ia, was cloned three years ago [Matthijs et al., 1997b]. Several publications list PMM2 mutations [
✦ LIBER ✦
Mutations in TPM3 are a common cause of congenital fiber type disproportion
✍ Scribed by Nigel F. Clarke; Hanna Kolski; Danielle E. Dye; Esther Lim; Robert L. L. Smith; Rakesh Patel; Michael C. Fahey; Rémi Bellance; Norma B. Romero; Edward S. Johnson; Annick Labarre-Vila; Nicole Monnier; Nigel G. Laing; Kathryn N. North
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 238 KB
- Volume
- 63
- Category
- Article
- ISSN
- 0364-5134
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