Genotype of Yupik Eskimos with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- 1 March 1992
- journal article
- Published by Springer Nature in Human Genetics
- Vol. 88 (6) , 647-648
- https://doi.org/10.1007/bf02265290
Abstract
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.Keywords
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