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