✦ LIBER ✦

Suppression of the nonsense mutation in homozygous β0 thalassaemia

✍ Scribed by Chang, Judy C.; Temple, Gary F.; Trecartin, Richard F.; Kan, Yuet Wai

Book ID: 109716424
Publisher: Nature Publishing Group
Year: 1979
Tongue: English
Weight: 245 KB
Volume: 281
Category: Article
ISSN: 0028-0836
DOI: 10.1038/281602a0

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Ferrara β0 thalassaemia caused by the β3

Ferrara β0 thalassaemia caused by the β39 nonsense mutation

✍ Pirastu, Mario; del Senno, Laura; Conconi, Francesco; Vullo, Calogero; Kan, Yuet 📂 Article 📅 1984 🏛 Nature Publishing Group 🌐 English ⚖ 136 KB

Presence of gene for β globin in homozyg

Presence of gene for β globin in homozygous β0 thalassaemia

✍ Tolstoshev, Paul; Mitchell, Joan; Lanyon, George; Williamson, Robert; Ottolenghi 📂 Article 📅 1976 🏛 Nature Publishing Group 🌐 English ⚖ 444 KB

Direct demonstration of β-globin mRNA in

Direct demonstration of β-globin mRNA in homozygous Ferrara β0-thalassaemia patients

✍ Ottolenghi, S.; Comi, P.; Giglioni, B.; Williamson, R.; Vullo, G.; Conconi, F. 📂 Article 📅 1977 🏛 Nature Publishing Group 🌐 English ⚖ 392 KB

Increased CA-15.3 levels in the serum of

Increased CA-15.3 levels in the serum of patients with homozygous β-thalassaemia and sickle cell/β-thalassaemia

✍ A. Symeonidis; A. Kouraklis-Symeonidis; I. Constandinidou; E. Solomou; S. Kougel 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 104 KB

A homozygous nonsense mutation in the EV

A homozygous nonsense mutation in the EVER2 gene leads to epidermodysplasia verruciformis

✍ X.-K. Sun; J.-F. Chen; A.-E. Xu 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 97 KB

Homozygous nonsense mutation in helix 2

Homozygous nonsense mutation in helix 2 of K14 causes severe recessive epidermolysis bullosa simplex

✍ Laura D. Corden; Jemima E. Mellerio; Matthew J. Gratian; Robin A. J. Eady; John 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 304 KB

We have studied a consanguineous family containing two children with severe, generalized epidermolysis bullosa simplex (EBS). Electron microscopy of skin biopsies from the affected individuals showed that basal keratinocytes were devoid of tonofilament bundles, although some single intermediate fila