N41707[Secondary Source ID] - Search Results

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

Braverman N, Steel G, Obie C, Moser A, Moser H, Gould SJ, Valle D. Braverman N, et al. Nat Genet. 1997 Apr;15(4):369-76. doi: 10.1038/ng0497-369. Nat Genet. 1997. PMID: 9090381

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

Motley AM, Hettema EH, Hogenhout EM, Brites P, ten Asbroek AL, Wijburg FA, Baas F, Heijmans HS, Tabak HF, Wanders RJ, Distel B. Motley AM, et al. Nat Genet. 1997 Apr;15(4):377-80. doi: 10.1038/ng0497-377. Nat Genet. 1997. PMID: 9090382

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