✦ LIBER ✦

Prevalence of polymorphic 21-hydroxylase gene (Ca21HB) mutations in salt-losing congenital adrenal hyperplasia

✍ Scribed by Nicholas Jospe; Patricia A. Donohoue; Cornelis Van Dop; Robert H. McLean; Wilma B. Bias; Claude J. Migeon

Book ID: 115760911
Publisher: Elsevier Science
Year: 1987
Tongue: English
Weight: 427 KB
Volume: 142
Category: Article
ISSN: 0006-291X
DOI: 10.1016/0006-291x(87)91484-7

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

HETEROGENEITY OF STEROID 21-HYDROXYLASE

HETEROGENEITY OF STEROID 21-HYDROXYLASE GENES IN CLASSICAL CONGENITAL ADRENAL HYPERPLASIA

✍ Dawkins, R. L. ;Martin, E. ;Kay, P. H. ;Garlepp, M. J. ;Wilton, A. N. ;Stuckey, 📂 Article 📅 1987 🏛 John Wiley and Sons 🌐 English ⚖ 602 KB

Preliminary investigation of mutations i

Preliminary investigation of mutations in 21-hydroxylase gene in patients with congenital adrenal hyperplasia in Russia

✍ Oleg Vadimovich Evgrafov; Alexandr Vladimirovich Polyakov; Irina Genrikhovna Dze 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 587 KB

## Communicated by Vladislav Baranov Mutations in 2 1 hydroxylase gene were investigated in 40 Russian patients with congenital adrenal hyperplasia. Quantitative amplificationhestriction procedure was used for detection of mutations in. volving promoter region, 3 and 8 exons. For affected chromoso

E380D: A novel point mutation of CYP21 i

E380D: A novel point mutation of CYP21 in an HLA-homozygous patient with salt-losing congenital adrenal hyperplasia due to 21-hydroxylase deficiency

✍ Linda Kirby-Keyser; Craig C. Porter; Patricia A. Donohoue 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 96 KB 👁 2 views

Prenatal diagnosis of congenital adrenal

Prenatal diagnosis of congenital adrenal hyperplasia by direct detection of mutations in the steroid 21-hydroxylase gene

✍ G. Rumsby; J. W. Honour; C. Rodeck 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 418 KB

Functional characterisation of the H365Y

Functional characterisation of the H365Y mutation of the 21-hydroxylase gene in congenital adrenal hyperplasia

✍ Dairena Gaffney; A. Forbes Howie; Anwar M. El. Bakkush; Thorsten M. Hoffmann; J. 📂 Article 📅 2011 🏛 Elsevier Science 🌐 English ⚖ 525 KB

Mutational spectrum of the gene for 21-h

Mutational spectrum of the gene for 21-hydroxylase in the patients with congenital adrenal hyperplasia from Bashkortostan

✍ V. L. Akhmetova; Z. F. Ramova; O. A. Malievsky; E. K. Khusnutdinova 📂 Article 📅 2008 🏛 SP MAIK Nauka/Interperiodica 🌐 English ⚖ 180 KB