✦ LIBER ✦

Identification of four novel mutations in the CYP21 gene in congenital adrenal hyperplasia in the Chinese

✍ Scribed by H.-H. Lee; Hsiang-Tai Chao; Yann-Jinn Lee; San-Ging Shu; Mei-Chyn Chao; Jing-Mei Kuo; Bun-chu Chung

Publisher: Springer
Year: 1998
Tongue: English
Weight: 383 KB
Volume: 103
Category: Article
ISSN: 0340-6717
DOI: 10.1007/s004390050821

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

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

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

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

Four novel mutations in the RPE65 gene i

Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis

✍ Marcia J. Simovich; Beverly Miller; Hany Ezzeldin; Bryan T. Kirkland; Genevieve 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 23 KB

Leber congenital amaurosis (LCA) is a heterogeneous disorder representing the congenital forms of retinitis pigmentosa accounting for about 5% of all retinal dystrophies. The RPE65 gene product is required for regeneration of the visual pigment for phototransduction. Defects in the RPE65 gene have s

Defective, deleted or converted CYP21B g

Defective, deleted or converted CYP21B gene and negative association with a rare restriction fragment length polymorphism allele of the factor B gene in congenital adrenal hyperplasia

✍ N. Ghanem; J. M. Lobaccaro; C. Buresi; M. Abbal; G. Halaby; C. Sultan; G. Lefran 📂 Article 📅 1990 🏛 Springer 🌐 English ⚖ 922 KB

Defects in the enzyme, steroid 21-hydroxylase, result in congenital adrenal hyperplasia (CAH), a common autosomal recessive disorder of cortisol biosynthesis. The gene encoding this protein (CYP21B) and a closely linked pseudogene (CYP21A) have been mapped in the HLA complex on chromosome 6p, adjace