✦ LIBER ✦

Mutations of the POMT1 gene found in patients with Walker–Warburg syndrome lead to a defect of protein O-mannosylation

✍ Scribed by Keiko Akasaka-Manya; Hiroshi Manya; Tamao Endo

Book ID: 116289361
Publisher: Elsevier Science
Year: 2004
Tongue: English
Weight: 375 KB
Volume: 325
Category: Article
ISSN: 0006-291X
DOI: 10.1016/j.bbrc.2004.10.001

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutations in POMT1 are found in a minori

Mutations in POMT1 are found in a minority of patients with Walker–Warburg syndrome

✍ Sophie C. Currier; Christine K. Lee; Bernard S. Chang; Adria L. Bodell; G. Shash 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 144 KB 👁 2 views

Mutations in the O-Mannosyltransferase G

Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome

✍ Daniel Beltrán-Valero de Bernabé; Sophie Currier; Alice Steinbrecher; Jacopo Cel 📂 Article 📅 2002 🏛 American Society of Human Genetics 🌐 English ⚖ 741 KB

Extracellular matrix and nuclear abnorma

Extracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker–Warburg syndrome caused by POMT1 mutation

✍ Patrizia Sabatelli; Marta Columbaro; Isabella Mura; Cristina Capanni; Giovanna L 📂 Article 📅 2003 🏛 Elsevier Science 🌐 English ⚖ 520 KB

An autosomal recessive limb girdle muscu

An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker–Warburg syndrome (WWS) caused by a mutation in the POMT1 gene

✍ Burcu Balci; Gökhan Uyanik; Pervin Dincer; Claudia Gross; Tobias Willer; Beril T 📂 Article 📅 2005 🏛 Elsevier Science 🌐 English ⚖ 230 KB

Two new patients bearing mutations in th

Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker–Warburg syndrome

✍ RP Cotarelo; MC Valero; B Prados; A Peña; L Rodríguez; O Fano; JJ Marco; ML Mart 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 543 KB

Mutations in a novel gene lead to kidney

Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome

✍ Michael L. Nickerson; Michelle B. Warren; Jorge R. Toro; Vera Matrosova; Gladys 📂 Article 📅 2002 🏛 Elsevier Science 🌐 English ⚖ 436 KB