| 1 | PEX7, RCDP1
|
| Identification of a novel missense mutation of PEX7 gene in an Iranian patient with rhizomelic chondrodysplasia punctata type 1.
|
| Mohamadynejad P, Ghaedi K, Shafeghati Y, Salamian A, Tanhaie S, Karamali F, Rabiee F, Parivar K, Baharvand H, Nasr-Esfahani MH.
|
| Gene 518(2):461-6. doi: 10.1016/j.gene.2013.01.022. Epub 2013 Jan 26.
2013
|
| 2 | PBD7, PEX7, RCDP1
|
| Association between peroxisomal biogenesis factor 7 and autism spectrum disorders in a Korean population.
|
| Ro M, Park J, Nam M, Bang HJ, Yang J, Choi KS, Kim SK, Chung JH, Kwack K.
|
| J Child Neurol 27(10):1270-5. Epub 2012 Feb 28.
2012
|
| 3 | AGPS, ARSE, CDPX1, CDPX2A, CHILD, DHAPAT, EBP, GGCX, HEMSK, KES, LBR, MGP, NSHDL, PEX7, RCDP1, RCDP2, RCDP3, VKCFD2, VKORC1
|
| Chondrodysplasia punctata: a clinical diagnostic and radiological review.
|
| Irving MD, Chitty LS, Mansour S, Hall CM.
|
| Clin Dysmorphol 17(4):229-41.
2008
|
| 4 | PEX7, RCDP1
|
| Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1.
|
| Motley AM, Brites P, Gerez L, Hogenhout E, Haasjes J, Benne R, Tabak HF, Wanders RJ, Waterham HR.
|
| Am J Hum Genet 70(3):612-24. 2002
|
| 5 | PEX7, RCDP1
|
| Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype.
|
| Braverman N, Chen L, Lin P, Obie C, Steel G, Douglas P, Chakraborty PK, Clarke JT, Boneh A, Moser A, Moser H, Valle D.
|
| Hum Mutat 20(4):284-97. 2002
|
| 6 | PEX7, RCDP1
|
| PEX7 Gene Structure, Alternative Transcripts, and Evidence for a Founder Haplotype for the Frequent RCDP Allele, L292ter.
|
| Braverman N, Steel G, Lin P, Moser A, Moser H, Valle D.
|
| Genomics 63(2):181-192. 2000
|
| 7 | RCDP1, PEX7
|
| Rhizomelic chondrodysplasia punctata, a peroxisomal biogenesis disorder caused by defects in Pex7p, a peroxisomal protein import receptor: a minireview.
|
| Purdue PE, et al.
|
| Neurochem Res 24(4):581-6. Review. 1999
|
| 8 | ABCD4, PBD1, PBD2, PBD3, PBD4, PBD5, PEX1, PEX13, PEX6, PEX7, PEX19, PXMP3, PEX5, RCDP1, ZWS1, ZWS2, ZWS3, IRD7, IRD8, PBD12
|
| Genotype-Phenotype Correlations in Disorders of Peroxisome Biogenesis.
|
| Moser HW.
|
| Mol Genet Metab 68(2):316-327 1999
|
| 9 | PEX7, RCDP1
|
| Molecular basis of rhizomelic chondrodysplasia punctata type I : high frequency of the Leu-292 stop mutation in 38 patients.
|
| Brites P, Motley A, Hogenhout E, Hettema E, Wijburg F, Heijmans HS, Tabak HF, Distel B, Wanders RJ.
|
| J Inherit Metab Dis 21 : 306-308. 1998
|
| 10 | RCDP1, PEX7
|
| Differential deficiency of mevalonate kinase and phosphomevalonate kinase in patients with distinct defects in peroxisome biogenesis: evidence for a major role of peroxisomes in cholesterol biosynthesis.
|
| Wanders RJ, et al.
|
| Biochem Biophys Res Commun 247(3):663-7. 1998
|
| 11 | PEX7, RCDP1
|
| Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata.
|
| Braverman N, et al.
|
| Nat Genet 15 : 369-376. 1997
|
| 12 | PEX7, RCDP1
|
| Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor.
|
| Motley AM, et al.
|
| Nat Genet 15 : 377-380. 1997
|
| 13 | PEX7, RCDP1
|
| Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor.
|
| Purdue PE, et al.
|
| Nat Genet 15 : 381-384. 1997
|
| 14 | RCDP1
|
| Assignment of human peroxisomal 3-oxoacyl-CoA thiolase (ACAA) to 3p14-pter.
|
| Ottone F, et al.
|
| (HGM11) Cytogenet Cell Genet 58 : 1880. 1991
|
| 15 | PEX7, RCDP1, RCDP2
|
| Peroxisomes of normal morphology but deficient in 3-oxoacyl-CoA thiolase in rhizomelic chondrodysplasia punctata fibroblasts.
|
| Heikoop JC, et al.
|
| Biochim Biophys Acta 1097: 62-70. 1991
|
| 16 | RCDP1, ACAA1
|
| Characterization of the gene encoding human peroxisomal 3-oxoacyl-CoA thiolase (ACAA). No large DNA rearrangement in a thiolase-deficient patient.
|
| Bout A, et al.
|
| Biochim Biophys Acta 1090(1):43-51 1991
|
| 17 | PEX7, RCDP1, RCDP2
|
| Rhizomelic chondrodysplasia punctata. Deficiency of 3-oxoacyl-coenzyme A thiolase in peroxisomes and impaired processing of the enzyme.
|
| Heikoop JC, et al.
|
| J Clin Invest 86 : 126-130. 1990
|