Genotype of Yupik Eskimos with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Phyllis W. Speisere; Maria I. New; Grace M. Tannin; Donald Pickering; Soo Young Yang; Perrin C. White

doi:10.1007/BF02265290

Genotype of Yupik Eskimos with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Phyllis W. Speisere, Maria I. New, Grace M. Tannin, Donald Pickering, Soo Young Yang, Perrin C. White

Research output: Contribution to journal › Article › peer-review

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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.

Original language	English (US)
Pages (from-to)	647-648
Number of pages	2
Journal	Human genetics
Volume	88
Issue number	6
DOIs	https://doi.org/10.1007/BF02265290
State	Published - Mar 1992

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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title = "Genotype of Yupik Eskimos with congenital adrenal hyperplasia due to 21-hydroxylase deficiency",

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.",

author = "Speisere, {Phyllis W.} and New, {Maria I.} and Tannin, {Grace M.} and Donald Pickering and Yang, {Soo Young} and White, {Perrin C.}",

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AU - Speisere, Phyllis W.

AU - New, Maria I.

AU - Tannin, Grace M.

AU - Pickering, Donald

AU - Yang, Soo Young

AU - White, Perrin C.

PY - 1992/3

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N2 - 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.

AB - 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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Genotype of Yupik Eskimos with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Abstract

ASJC Scopus subject areas

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