𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Novel frameshifting mutations of the ZMPSTE24 gene in two siblings affected with restrictive dermopathy and review of the mutations described in the literature

✍ Scribed by Robert Smigiel; Aleksandra Jakubiak; Vera Esteves-Vieira; Katarzyna Szela; Agnieszka Halon; Tomasz Jurek; Nicolas Lévy; Annachiara De Sandre-Giovannoli


Book ID
101455140
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
219 KB
Volume
152A
Category
Article
ISSN
1552-4825

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Splice mutations in the p53 gene: case r
✍ R. Holmila; C. Fouquet; J. Cadranel; G. Zalcman; T. Soussi 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 138 KB

Splice mutations in the p53 gene (TP53) are described as rare events that occur at a frequency of less than 1%. Using a functional assay based on the transcriptional activity of p53 and using RNA as starting material, we describe here a p53 splice mutation that could not be detected by genomic seque

Molecular pathology of galactosialidosis
✍ Catherine Richard; Julie Tranchemontagne; Marc-André Elsliger; Grant A. Mitchell 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 269 KB 👁 2 views

Galactosialidosis is a recessively inherited lysosomal storage disease characterized by the combined deficiency of neuraminidase and beta-galactosidase secondary to the genetic deficiency of cathepsin A/protective protein. In lysosomes, cathepsin A forms a high-molecular-weight complex with beta-gal