𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder

✍ Scribed by Gootjes, Jeannette; Schmohl, Frank; Waterham, Hans R; Wanders, Ronald J A


Book ID
110025499
Publisher
Nature Publishing Group
Year
2003
Tongue
English
Weight
107 KB
Volume
12
Category
Article
ISSN
1018-4813

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Novel PEX1 mutations and genotype–phenot
✍ Megan A. Maxwell; Tamara Allen; Pamela B. Solly; Terje Svingen; Barbara C. Paton πŸ“‚ Article πŸ“… 2002 πŸ› John Wiley and Sons 🌐 English βš– 183 KB

The peroxisome biogenesis disorders (PBDs) are a group of neuronal migration/neurodegenerative disorders that arise from defects in PEX genes. A major subgroup of the PBDs includes Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease (IRD). These three disorder

Genomic structure and identification of
✍ Zhongyi Zhang; Yasuyuki Suzuki; Nobuyuki Shimozawa; Seiji Fukuda; Atsushi Imamur πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 425 KB πŸ‘ 2 views

The PEX6 (peroxisome assembly factor-2, PAF-2) gene encodes a member of the AAA protein (ATPases associated with diverse cellular activities) family and restores peroxisome assembly in fibroblasts from peroxisome biogenesis disorder patients belonging to complementation group C (group 4 in the Unite

PEX1 mutations in the Zellweger spectrum
✍ Denis I. Crane; Megan A. Maxwell; Barbara C. Paton πŸ“‚ Article πŸ“… 2005 πŸ› John Wiley and Sons 🌐 English βš– 211 KB

Diseases of the Zellweger spectrum represent a major subgroup of the peroxisome biogenesis disorders, a group of autosomal-recessive diseases that are characterized by widespread tissue pathology, including neurodegeneration. The Zellweger spectrum represents a clinical continuum, with Zellweger syn

A mutation in PEX19 causes a severe clin
✍ Sarar Mohamed; Ebtisam El-Meleagy; Abdelhaleem Nasr; Merel S. Ebberink; Ronald J πŸ“‚ Article πŸ“… 2010 πŸ› John Wiley and Sons 🌐 English βš– 93 KB πŸ‘ 2 views

## Abstract Peroxisomal biogenesis disorders (PBD) are groups of inherited neurometabolic disorders caused by defects in PEX genes. We report on a female infant, born to a consanguineous parents (first degree cousins), who presented with inactivity, poor sucking, and hypotonia early in the neonatal