To facilitate a rapid and practical molecular diagnosis of 21-hydroxylase deficiency (21-OHD), we developed a polymerase chain reaction (PCR) test in which only the 21-OH gene (CYP21) is amplified. We applied the test to diagnose 23 patients with saltwasting type of 21-OHD. The upstream and downstre
β¦ LIBER β¦
Molecular methods for the detection of mutations
β Scribed by C. Monteiro; L.A. Marcelino; A.R. Conde; C. Saraiva; M. Giphart-Gassler; A.G. De Nooij-van Dalen; V. Van Buuren-van Seggelen; M. Van der Keur; C.A. May; J. Cole; A.R. Lehmann; H. Steinsgrimsdottir; D. Beare; E. Capulas; J.A.L. Armour
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 350 KB
- Volume
- 20
- Category
- Article
- ISSN
- 0270-3211
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Bloom's syndrome (BS) is a rare, autosomal recessive disease characterized by sun sensitivity, short stature, and predisposition to cancer. Although rare in the general population, BS is more common in the Ashkenazi Jewish population (German, 1993). The isolation of the gene for BS, known as BLM, ha