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Authors: BRITES P MOTLEY A HOGENHOUT E HETTEMA E WIJBURG F HEIJMANS HSA TABAK HF DISTEL B WANDERS RJA
Citation: P. Brites et al., MOLECULAR-BASIS OF RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE-I - HIGH-FREQUENCY OF THE LEU-292 STOP MUTATION IN 38 PATIENTS, Journal of inherited metabolic disease, 21(3), 1998, pp. 306-308

Authors: MOTLEY AM HETTEMA EH HOGENHOUT EM BRITES P TENASBROEK ALMA WIJBURG FA BAAS F HEIJMANS HS TABAK HF WANDERS RJA DISTEL B
Citation: Am. Motley et al., RHIZOMELIC CHONDRODYSPLASIA PUNCTATA IS A PEROXISOMAL PROTEIN TARGETING DISEASE CAUSED BY A NONFUNCTIONAL PTS2 RECEPTOR, Nature genetics, 15(4), 1997, pp. 377-380
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