✦ LIBER ✦

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

✍ Scribed by X.-K. Sun; J.-F. Chen; A.-E. Xu

Book ID: 108693540
Publisher: John Wiley and Sons
Year: 2005
Tongue: English
Weight: 97 KB
Volume: 30
Category: Article
ISSN: 0307-6938
DOI: 10.1111/j.1365-2230.2005.01858.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Novel Homozygous Frameshift Mutation of

Novel Homozygous Frameshift Mutation of EVER1 Gene in an Epidermodysplasia Verruciformis Patient

✍ Gober, Michael D; Rady, Peter L; He, Qin; Tucker, Stephen B; Tyring, Stephen K; 📂 Article 📅 2007 🏛 Nature Publishing Group 🌐 English ⚖ 109 KB

A novel homozygous mutation of the EVER1

A novel homozygous mutation of the EVER1/TMC6 gene in a Japanese patient with epidermodysplasia verruciformis

✍ S. Aochi; G. Nakanishi; N. Suzuki; N. Setsu; D. Suzuki; K. Aya; K. Iwatsuki 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 620 KB

Novel homozygous nonsense TMC8 mutation

Novel homozygous nonsense TMC8 mutation detected in patients with epidermodysplasia verruciformis from a Brazilian family

✍ P.L. Rady; W.R.P. De Oliveira; Q. He; C. Festa; E.A. Rivitti; S.B. Tucker; S.K. 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 291 KB

Identification of Defective Fas Function

Identification of Defective Fas Function and Variation of the Perforin Gene in an Epidermodysplasia Verruciformis Patient Lacking EVER1 and EVER2 Mutations

✍ Zavattaro, Elisa; Azzimonti, Barbara; Mondini, Michele; De Andrea, Marco; Borgog 📂 Article 📅 2008 🏛 Nature Publishing Group 🌐 English ⚖ 424 KB

A homozygous nonsense mutation in the me

A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria

✍ H. Bikker; H.D. Bakker; N.G.G.M. Abeling; B.T. Poll-The; W.J. Kleijer; D.S. Rose 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 195 KB

## Communicated by Johannes Zschocke Methylmalonic aciduria (MMA-uria) is an autosomal recessive inborn error of amino acid metabolism, involving valine, threonine, isoleucine, and methionine. This organic aciduria may present in the neonatal period with life-threatening metabolic acidosis, hypera

A homozygous nonsense mutation inSOX9in

A homozygous nonsense mutation inSOX9in the dominant disorder campomelic dysplasia: a case of mitotic gene conversion

✍ Ramona Pop; Michael V. Zaragoza; Mara Gaudette; Ulrike Dohrmann; Gerd Scherer 📂 Article 📅 2005 🏛 Springer 🌐 English ⚖ 467 KB