Molecular basis of rhizomelic chondrodysplasia punctata type I: High frequency of the Leu‐292 Stop mutation in 38 patients

Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata

Nancy Braverman, Gary Steel, Cassandra Obie et al. · Nature Genetics · 1997 · 445 citations

Life Sciences, Molecular Biology, Molecular Genetics +6

Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor

Alison M. Motley, Ewald H. Hettema, Eveline M. Hogenhout et al. · Nature Genetics · 1997 · 272 citations

Life Sciences, Molecular Biology, Pathology +10

Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor

P. Edward Purdue, Jing Wei Zhang, Marek Skoneczny et al. · Nature Genetics · 1997 · 270 citations

Life Sciences, Genetics, Molecular Genetics +7

Bone dysplasia associated with phytanic acid accumulation and deficient plasmalogen synthesis: A peroxisomal entity amenable to plasmapheresis

F. A. Beemer, Marc Espeel, R. A. M. G. Donckerwocke et al. · Journal of Inherited Metabolic Disease · 1992 · 57 citations

Medicine, Molecular Medicine, Nutritional Sciences +17

Genetic and biochemical heterogeneity in patients with the rhizomelic form of chondrodysplasia punctata ? a complementation study

J. Heikoop, RonaldJ A Wanders, Anneke Strijland et al. · Human Genetics · 1992 · 35 citations

Life Sciences, Genetics, Molecular Genetics +12