We have applied single-strand conformation polymorphism (SSCP) to the analysis of exon 7 of the anticoagulant protein C (PC) gene, in 13 PC-deficient Spanish families. Abnormal patterns were visualized in three samples from type I or quantitative PC deficient proposita. A previously undescribed muta
Identification of the insertion/deletion mutation in Spanish β-propionyl-CoA carboxylase-deficient patients
✍ Scribed by C. Pérez-Cerdá; P. Rodríguez-Pombo; M. Ugarte
- Publisher
- Springer
- Year
- 1994
- Tongue
- English
- Weight
- 177 KB
- Volume
- 17
- Category
- Article
- ISSN
- 0141-8955
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