Summary
An A-to-G transition in the second intron was the sole mutation detected in four Yupik Eskimo patients with salt-wasting congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency. Allele-specific hybridization should be an efficient means of performing prenatal diagnosis of the disease in this highly inbred population.
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Speisere, P.W., New, M.I., Tannin, G.M. et al. Genotype of Yupik Eskimos with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Hum Genet 88, 647–648 (1992). https://doi.org/10.1007/BF02265290
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DOI: https://doi.org/10.1007/BF02265290