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TITLE: Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1
AUTHORS: Motley, AM; Brites, P; Gerez, L; Hogenhout, E; Haasjes, J; Benne, R; Tabak, HF; Wanders, RJA; Waterham, HR;
PUBLISHED: 2002, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 70, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef
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TITLE: Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor
AUTHORS: Motley, AM; Hettema, EH; Hogenhout, EM; Brites, P; tenAsbroek, ALMA; Wijburg, FA; Baas, F; Heijmans, HS; Tabak, HF; Wanders, RJA; Distel, B;
PUBLISHED: 1997, SOURCE: NATURE GENETICS, VOLUME: 15, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef