✦ LIBER ✦

The importance of heteroduplexes in interpreting the results of PCR-RED diagnostic assays: Application to the analysis of mutations in the steroid 21-hydroxylase gene in a case of congenital adrenal hyperplasia

✍ Scribed by BRADLEY, J; BAKER, D; DAVIDSCHWARTZ, I; ROTHBERG, P

Book ID: 123184292
Publisher: Adis International Limited (now part of Wolters Kluwer Health)
Year: 1998
Tongue: English
Weight: 853 KB
Volume: 3
Category: Article
ISSN: 1532-8619
DOI: 10.1016/S1084-8592(98)80060-X

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

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

Analysis of the Association between theH

Analysis of the Association between theHLA-DQA1Alleles and the Steroid 21-Hydroxylase Gene Mutations in the Patients with Congenital Adrenal Hyperplasia

✍ N. S. Osinovskaya; T. E. Ivashchenko; V. S. Baranov 📂 Article 📅 2004 🏛 SP MAIK Nauka/Interperiodica 🌐 English ⚖ 31 KB

Novel nonsense mutation (W302X) in the s

Novel nonsense mutation (W302X) in the steroid 21-hydroxylase gene of a Finnish patient with the salt-wasting form of congenital adrenal hyperplasia

✍ Antii Levo; Jukka Partanen 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 105 KB 👁 2 views

Application of the DHPLC method for muta

Application of the DHPLC method for mutational detection of the CYP21A2 gene in congenital adrenal hyperplasia

✍ Li-Ping Tsai; Ching-Feng Cheng; Jo-Ping Hsieh; Ming-sheng Teng; Hsien-Hsiung Lee 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 390 KB

A novel frameshift mutation (141delT) in

A novel frameshift mutation (141delT) in exon 1 of the 21-hydroxylase gene (CYP21) in a patient with the salt wasting form of congenital adrenal hyperplasia

✍ Nils Krone; Andreas Braun; Adelbert Anton Roscher; Hans Peter Schwarz 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 349 KB 👁 2 views

Congenital adrenal hyperplasia (CAH) is a common autosomal recessive disease with a wide range of clinical manifestation. In 90-95% of the cases it is caused by 21-hydroxylase deficiency (OMIM #201910) due to mutations of the CYP21 gene (GDB Accession #M12792). In most cases the CYP21-inactivating p

Substitution of Ile-172 to Asn in the st

Substitution of Ile-172 to Asn in the steroid 21-hydroxylase B (P450c21B) gene in a Finnish patient with the simple virilizing form of congenital adrenal hyperplasia

✍ Jukka Partanen; R. Duncan Campbell 📂 Article 📅 1991 🏛 Springer 🌐 English ⚖ 543 KB

The steroid 21-hydroxylase enzyme (P450c21) is a member of the cytochrome P450 gene superfamily and is essential in the synthesis of cortisol and aldosterone. Defects in the P450c21B gene cause congenital adrenal hyperplasia (CAH), a common genetic disorder leading to virilization of newborn females