✦ LIBER ✦

Identification of two Novel Frameshift Mutations in the KCNJ11 gene in two Italian patients affected by Congenital Hyperinsulinism of Infancy

✍ Scribed by Laura Biagiotti; Maria Carla Proverbio; Laura Bosio; Fabio Gervasi; Ermanna Rovida; Valeria Cerioni; Maddalena Bove; Paola Sogno Valin; Luca Albarello; Ilaria Zamproni; Stefano Grassi; Claudio Doglioni; Stefano Mora; Giuseppe Chiumello; Ida Biunno

Book ID: 113956498
Publisher: Elsevier Science
Year: 2007
Tongue: English
Weight: 708 KB
Volume: 83
Category: Article
ISSN: 0014-4800
DOI: 10.1016/j.yexmp.2006.11.006

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Two novel mutations of the arylsulfatase

Two novel mutations of the arylsulfatase B gene in two Italian patients with severe form of mucopolysaccharidosis

✍ Guglielmo R. D. Villani; Nicola Balzano; Paola Di Natale 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 60 KB 👁 2 views

Mucopolysaccharidosis type VI (MPS VI) or Maroteaux-Lamy syndrome, is a autosomal recessive disorder, due to the deficiency of the lysosomal enzyme N-acetylgalactosamine-4-sulfatase (arylsulfatase B, ASB: EC 3.1.6.12). Three classical forms of the disease have been differentiated: severe, intermedia

Novel frameshifting mutations of the ZMP

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

✍ Robert Smigiel; Aleksandra Jakubiak; Vera Esteves-Vieira; Katarzyna Szela; Agnie 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 219 KB

Molecular pathology of galactosialidosis

Molecular pathology of galactosialidosis in a patient affected with two new frameshift mutations in the cathepsin A/protective protein gene

✍ 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

CYP21A2 mutations in Portuguese patients

CYP21A2 mutations in Portuguese patients with congenital adrenal hyperplasia: Identification of two novel mutations and characterization of four different partial gene conversions

✍ Ana Friães; Ana Toste Rêgo; José Maria Aragüés; Luís Francisco Moura; Alice Mira 📂 Article 📅 2006 🏛 Elsevier Science 🌐 English ⚖ 430 KB

Two Novel Mutations at Exon 8 of the Seq

Two Novel Mutations at Exon 8 of the Sequestosome 1 (SQSTM1) Gene in an Italian Series of Patients Affected by Paget's Disease of Bone (PDB)

✍ Alberto Falchetti; Marco Di Stefano; Francesca Marini; Francesca Del Monte; Carm 📂 Article 📅 2004 🏛 American Society for Bone and Mineral Research 🌐 English ⚖ 361 KB

Identification of two novel mutations in

Identification of two novel mutations in the NF1 gene in Chinese patients with neurofibromatosis type 1

✍ Bin Chen; Liang-Dan Sun; Fu-Sheng Zhou; Feng-Ming Yao; Cheng Quan; Qiao-Yun Fang 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 799 KB