This report describes the identification of a point mutation in the 5␣-reductase type 2 (5␣-SR2) gene from a family in which both sibs (6 and 3 years old) have steroid 5␣-reductase 2 deficiency. The five exons of the gene were individually amplified by the polymerase chain reaction (PCR) and analyse
Familial apolipoprotein CII deficiency: A preliminary analysis of the gene defect in two independent families
✍ Scribed by S. E. Humphries; L. Williams; O. Myklebost; A. F. H. Stalenhoef; P. N. M. Demacker; G. Baggio; G. Crepaldi; D. J. Galton; R. Williamson
- Publisher
- Springer
- Year
- 1984
- Tongue
- English
- Weight
- 862 KB
- Volume
- 67
- Category
- Article
- ISSN
- 0340-6717
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