✦ LIBER ✦

Childhood-onset mild cutaneous porphyria with compound heterozygotic mutations in the uroporphyrinogen decarboxylase gene

✍ Scribed by É. Remenyik; M. Lecha; C. Badenas; F. Kószó; V. Vass; C. Herrero; V. Varga; G. Emri; A. Balogh; I. Horkay

Book ID: 108694665
Publisher: John Wiley and Sons
Year: 2008
Tongue: English
Weight: 244 KB
Volume: 33
Category: Article
ISSN: 0307-6938
DOI: 10.1111/j.1365-2230.2008.02734.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Identification of a mutation in the ovin

Identification of a mutation in the ovine uroporphyrinogen decarboxylase (UROD) gene associated with a type of porphyria

✍ R. Nezamzadeh; A. Seubert; J. Pohlenz; B. Brenig 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 285 KB

Homozygous variegate porphyria: a compou

Homozygous variegate porphyria: a compound heterozygote with novel mutations in the protoporphyrinogen oxidase gene

✍ R.A. Palmer; G.H. Elder; D_f. Barrett; S.G. Keohane 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 319 KB

Seven novel point mutations in the uropo

Seven novel point mutations in the uroporphyrinogen decarboxylase (UROD) gene in patients with familial porphyria cutanea tarda (f-PCT)

✍ M.D. Cappellini; F. Martinez di Montemuros; D. Tavazzi; S. Fargion; A. Pizzuti; 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 89 KB 👁 1 views

In this work, we describe seven novel molecular defects in the uroporphyrinogen decarboxylase gene responsible for familial porphyria cutanea tarda in Italian subjects with reduced erythrocyte URO-D activity. Four of these molecular abnormalities (R142Q, L161Q, S219F, P235S) are missense mutations,