✦ LIBER ✦

Steroid 21-hydroxylase gene mutational spectrum in 50 Tunisian patients: Characterization of three novel polymorphisms

✍ Scribed by Ilhem Ben Charfeddine; Felix G. Riepe; Eric Clauser; Abdelkarim Ayedi; Saloua Makni; Mohamed Tahar Sfar; Hassen Sboui; Najoua Kahloul; Hechmi Ben Hamouda; Slaheddine Chouchane; Sihem Trimech; Noura Zouari; Samir M'Rabet; Fathi Amri; Ali Saad; Paul-Martin Holterhus; Moez Gribaa

Book ID: 118063732
Publisher: Elsevier Science
Year: 2012
Tongue: English
Weight: 529 KB
Volume: 507
Category: Article
ISSN: 0378-1119
DOI: 10.1016/j.gene.2012.07.027

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutational Spectrum of the Steroid 21-Hy

Mutational Spectrum of the Steroid 21-Hydroxylase Gene in Austria: Identification of a Novel Missense Mutation

✍ Baumgartner-Parzer, S. M.; Schulze, E.; Waldhäusl, W.; Pauschenwein, S.; Rondot, 📂 Article 📅 2001 🏛 Endocrine Society 🌐 English ⚖ 132 KB

Clinical Phenotype and Mutation Spectrum

Clinical Phenotype and Mutation Spectrum of the CYP21A2 Gene in Patients with Steroid 21-Hydroxylase Deficiency

✍ Choi, J.-H.; Jin, H.-Y.; Lee, B.; Ko, J.; Lee, J.-J.; Kim, G.-H.; Jung, C.-W.; L 📂 Article 📅 2011 🏛 Thieme Medical Publishers 🌐 English ⚖ 223 KB

Steroid 21-hydroxylase gene mutational s

Steroid 21-hydroxylase gene mutational spectrum in 454 Argentinean patients: genotype–phenotype correlation in a large cohort of patients with congenital adrenal hyperplasia

✍ Roxana Marino; Pablo Ramirez; Jesica Galeano; Natalia Perez Garrido; Carlos Rocc 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 89 KB

Three Novel Mutations in CYP21 Gene in B

Three Novel Mutations in CYP21 Gene in Brazilian Patients with the Classical Form of 21-Hydroxylase Deficiency Due to a Founder Effect

✍ Billerbeck, Ana Elisa C.; Mendonca, Berenice B.; Pinto, Emilia M.; Madureira, Gu 📂 Article 📅 2002 🏛 Endocrine Society 🌐 English ⚖ 87 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