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 journalArticle

32 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 languageEnglish (US)
Pages (from-to)647-648
Number of pages2
JournalHuman genetics
Volume88
Issue number6
DOIs
StatePublished - Mar 1992

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Genotype of Yupik Eskimos with congenital adrenal hyperplasia due to 21-hydroxylase deficiency'. Together they form a unique fingerprint.

  • Cite this