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

38 Scopus citations

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
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
Externally published	Yes

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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.\}",

year = "1992",

month = mar,

doi = "10.1007/BF02265290",

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volume = "88",

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journal = "Human Genetics",

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T1 - Genotype of Yupik Eskimos with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

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

Y1 - 1992/3

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.

UR - https://www.scopus.com/pages/publications/0026576532

U2 - 10.1007/BF02265290

DO - 10.1007/BF02265290

M3 - Article

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AN - SCOPUS:0026576532

SN - 0340-6717

VL - 88

SP - 647

EP - 648

JO - Human Genetics

JF - Human Genetics

IS - 6

ER -

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

Abstract

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