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Identification of PEX7 as the Second Gene Involved in Refsum Disease

โœ Scribed by Daan M. van den Brink; Pedro Brites; Janet Haasjes; Anthony S. Wierzbicki; John Mitchell; Michelle Lambert-Hamill; Jacqueline de Belleroche; Gerbert A. Jansen; Hans R. Waterham; J.A. Ronald Wanders

Book ID
117854118
Publisher
American Society of Human Genetics
Year
2003
Tongue
English
Weight
347 KB
Volume
72
Category
Article
ISSN
0002-9297

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๐Ÿ“œ SIMILAR VOLUMES

Molecular basis of Refsum disease: Seque
Molecular basis of Refsum disease: Sequence variations in Phytanoyl-CoA Hydroxylase (PHYH) and the PTS2 receptor (PEX7)
โœ Gerbert A. Jansen; Hans R. Waterham; Ronald J. A. Wanders ๐Ÿ“‚ Article ๐Ÿ“… 2004 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 227 KB

## Communicated by Johannes Zschocke Refsum disease has long been known to be an inherited disorder of lipid metabolism characterized by the accumulation of phytanic acid (3,7,11,15-tetramethylhexadecanoic acid) caused by an a-oxidation deficiency of this branched chain fatty acid in peroxisomes.