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Biochemical Characterization of Arylsulfatase E and Functional Analysis of Mutations Found in Patients with X-Linked Chondrodysplasia Punctata

✍ Scribed by Aurora Daniele; Giancarlo Parenti; Marilena d'Addio; Generoso Andria; Andrea Ballabio; Germana Meroni

Book ID
117852317
Publisher
American Society of Human Genetics
Year
1998
Tongue
English
Weight
618 KB
Volume
62
Category
Article
ISSN
0002-9297

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## Abstract X‐linked chondrodysplasia punctata (CDPX1), due to mutations of the arylsulfatase E (__ARSE__) gene, is a congenital disorder characterized by abnormalities in cartilage and bone development. We performed mutational analysis of the __ARSE__ gene in a series of 16 male patients, and we f

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PEX7 encodes the cytosolic receptor for the set of peroxisomal matrix enzymes targeted to the organelle by the peroxisome targeting signal 2 (PTS2). Mutations in PEX7 cause rhizomelic chondrodysplasia punctata (RCDP), a distinct peroxisome biogenesis disorder. In previous work we described three nov