𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Analysis of steroid 21-hydroxylase gene mutations in the Spanish population

✍ Scribed by Begoña Ezquieta; Antonio Oliver; Ricardo Gracia; Pilar G. Gancedo

Publisher
Springer
Year
1995
Tongue
English
Weight
936 KB
Volume
96
Category
Article
ISSN
0340-6717

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

MICROSATELLITE MARKERS IN THE INDIRECT A
MICROSATELLITE MARKERS IN THE INDIRECT ANALYSIS OF THE STEROID 21-HYDROXYLASE GENE
✍ BEGOÑA EZQUIETA; CARLOS JARIEGO; JOSÉ M. VARELA; ANTONIO OLIVER; RICARDO GRACIA 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 332 KB

Prenatal diagnosis and treatment of congenital adrenal hyperplasia due to steroid 21-hydroxylase (21-OH) deficiency has been proved to be effective. Screening for a panel of nine point mutations, deletions, and gene conversions allows the identification of most of the mutations, although 6-12 per ce

Screening of CYP21 gene mutations in 129
Screening of CYP21 gene mutations in 129 French patients affected by steroid 21-hydroxylase deficiency
✍ Benoit Barbat; Any Bogyo; Marie-Charles Raux-Demay; Frédéarique Kuttenn; Joelle 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 503 KB

The frequency of 12 different mutations of the steroid 21-hydroxylase gene (CYP21) was investigated in 129 French patients affected by congenital adrenal hyperplasia (CAH) due to steroid 21-hydroxylase deficiency. Eighty-nine percent of the CAH chromosomes were characterized. The most frequent mutat

Steroid 21-hydroxylase deficiency: Mutat
Steroid 21-hydroxylase deficiency: Mutational spectrum in Denmark, three novel mutations, and in vitro expression analysis
✍ Gita Ohlsson; Jørn Müller; Niels Erik Skakkebæk; Marianne Schwartz 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 182 KB 👁 2 views

We have investigated 68 unrelated 21-hydroxylase deficient Danish patients, representing 136 alleles, and determined the mutational spectrum of the CYP21 gene. The most frequent mutations detected were deletion of CYP21 and the splice mutation in intron 2 (I2-splice). Segregation analysis showed evi

A steroid 21-hydroxylase allele concomit
A steroid 21-hydroxylase allele concomitantly carrying four disease-causing mutations is not uncommon in the Swedish population
✍ Anna Wedell; Xu Chun; Holger Luthman 📂 Article 📅 1994 🏛 Springer 🌐 English ⚖ 382 KB

We describe a steroid 21-hydroxylase allele carrying four disease-causing mutations, viz. I173N, V282L, I237N + V238E + M240K, and the insertion of T at 308 L. The first two are established causes of partial enzyme deficiency, whereas the last two are known to result in the most severe, salt-wasting