{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T08:14:11Z","timestamp":1760170451233,"version":"3.37.3"},"reference-count":21,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[1997,6,1]],"date-time":"1997-06-01T00:00:00Z","timestamp":865123200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":5892,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100022100","name":"Women's and Children's Hospital Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100022100","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001075","name":"Channel 7 Children's Research Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001075","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001734","name":"K\u00f8benhavns Universitet","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001734","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008397","name":"Velux Fonden","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008397","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100018940","name":"Diabetesforeningen","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100018940","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[1997,6]]},"DOI":"10.1016\/s0002-9297(07)64247-5","type":"journal-article","created":{"date-parts":[[2008,1,29]],"date-time":"2008-01-29T12:17:44Z","timestamp":1201609064000},"page":"1535-1539","source":"Crossref","is-referenced-by-count":10,"title":["Absence of Mutations Raises Doubts about the Role of the 70-kD Peroxisomal Membrane Protein in Zellweger Syndrome"],"prefix":"10.1016","volume":"60","author":[{"given":"BARBARA C.","family":"PATON","sequence":"first","affiliation":[]},{"given":"SARAH E.","family":"HERON","sequence":"additional","affiliation":[]},{"given":"PAUL V.","family":"NELSON","sequence":"additional","affiliation":[]},{"given":"C. PHILLIP","family":"MORRIS","sequence":"additional","affiliation":[]},{"given":"ALFRED","family":"POULOS","sequence":"additional","affiliation":[]}],"member":"78","reference":[{"key":"10.1016\/S0002-9297(07)64247-5_bib1","first-page":"137","article-title":"Analysis of the VNTR locus D1S80 by the PCR followed by high-resolution PAGE","volume":"48","author":"Budowle","year":"1991","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0002-9297(07)64247-5_bib2","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1002\/humu.1380030308","article-title":"Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G\u2192A, and 3667del4)","volume":"3","author":"Chill\u00f3n","year":"1994","journal-title":"Hum Mutat"},{"key":"10.1016\/S0002-9297(07)64247-5_bib3","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1016\/0003-2697(87)90021-2","article-title":"Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloro-form extraction","volume":"162","author":"Chomczynski","year":"1987","journal-title":"Anal Biochem"},{"key":"10.1016\/S0002-9297(07)64247-5_bib4","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1038\/ng0492-16","article-title":"Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome","volume":"1","author":"G\u00e4rtner","year":"1992","journal-title":"Nat Genet"},{"key":"10.1016\/S0002-9297(07)64247-5_bib5","doi-asserted-by":"crossref","first-page":"654","DOI":"10.1093\/hmg\/1.8.654","article-title":"A polymorphic synonomous mutation (K54K) in the human 70 kD peroxisomal membrane protein gene (PMP1)","volume":"1","author":"G\u00e4rtner","year":"1992","journal-title":"Hum Mol Genet"},{"key":"10.1016\/S0002-9297(07)64247-5_bib6","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1007\/BF00711820","article-title":"Restoration of peroxisome biogenesis in a peroxisome-deficient mammalian cell line by expression of either the 35 kDa or the 70 kDa peroxisomal membrane proteins","volume":"17","author":"G\u00e4rtner","year":"1994","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/S0002-9297(07)64247-5_bib7","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1146\/annurev.cb.08.110192.000435","article-title":"ABC transporters: from microorganisms to man","volume":"8","author":"Higgins","year":"1992","journal-title":"Annu Rev Cell Biol"},{"key":"10.1016\/S0002-9297(07)64247-5_bib8","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1016\/0167-4781(92)90510-7","article-title":"Nucleotide sequence of the human 70 kDa peroxisomal membrane protein: a member of ATP-binding cassette transporters","volume":"1129","author":"Kamijo","year":"1992","journal-title":"Biochim Biophys Acta"},{"key":"10.1016\/S0002-9297(07)64247-5_bib9","doi-asserted-by":"crossref","first-page":"4534","DOI":"10.1016\/S0021-9258(19)39595-X","article-title":"The 70-kDa peroxisomal membrane protein is a member of the Mdr (P-glycoprotein)-related ATP-binding protein superfamily","volume":"265","author":"Kamijo","year":"1990","journal-title":"J Biol Chem"},{"key":"10.1016\/S0002-9297(07)64247-5_bib10","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1002\/humu.1380060203","article-title":"Mutational analysis of patients with X-linked adrenoleukodystrophy","volume":"6","author":"Kok","year":"1995","journal-title":"Hum Mutat"},{"key":"10.1016\/S0002-9297(07)64247-5_bib11","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1016\/S0022-3476(95)70250-4","article-title":"Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups","volume":"127","author":"Moser","year":"1995","journal-title":"J Pediatr"},{"key":"10.1016\/S0002-9297(07)64247-5_bib12","doi-asserted-by":"crossref","first-page":"2766","DOI":"10.1073\/pnas.86.8.2766","article-title":"Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms","volume":"86","author":"Orita","year":"1989","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/S0002-9297(07)64247-5_bib13","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1172\/JCI118465","article-title":"Oxidation of pristanic acid in fibroblasts and its application to the diagnosis of peroxisomal \u03b2-oxidation defects","volume":"97","author":"Paton","year":"1996","journal-title":"J Clin Invest"},{"key":"10.1016\/S0002-9297(07)64247-5_bib14","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1093\/hmg\/3.5.801","article-title":"Sensitivity of single-stranded conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene","volume":"3","author":"Ravnik-Glavac","year":"1994","journal-title":"Hum Mol Genet"},{"key":"10.1016\/S0002-9297(07)64247-5_bib15","doi-asserted-by":"crossref","first-page":"5463","DOI":"10.1073\/pnas.74.12.5463","article-title":"DNA sequencing with chain terminating inhibitors","volume":"74","author":"Sanger","year":"1977","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/S0002-9297(07)64247-5_bib16","doi-asserted-by":"crossref","first-page":"6012","DOI":"10.1073\/pnas.92.13.6012","article-title":"PXA1, a possible Saccharomyces cerevisiae ortholog of the human adrenoleuko-dystrophy gene","volume":"92","author":"Shani","year":"1995","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/S0002-9297(07)64247-5_bib17","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1006\/geno.1993.1193","article-title":"The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions","volume":"16","author":"Sheffield","year":"1993","journal-title":"Genomics"},{"key":"10.1016\/S0002-9297(07)64247-5_bib18","first-page":"843","article-title":"Standardization of complementation grouping of peroxisome-deficient disorders and the second patient with peroxisomal assembly factor-1 (PAF-1) defect","volume":"52","author":"Shimozawa","year":"1993","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0002-9297(07)64247-5_bib19","doi-asserted-by":"crossref","first-page":"812","DOI":"10.1203\/00006450-199605000-00011","article-title":"Correction by gene expression of biochemical abnormalities in fibroblasts from Zellweger patients","volume":"39","author":"Shimozawa","year":"1996","journal-title":"Pediatr Res"},{"key":"10.1016\/S0002-9297(07)64247-5_bib20","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1007\/BF00309784","article-title":"Characterization of peroxisome-deficient mutants of Hansenula polymorpha","volume":"28","author":"Tan","year":"1995","journal-title":"Curr Genet"},{"key":"10.1016\/S0002-9297(07)64247-5_bib21","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1007\/BF00219334","article-title":"Complementation study of peroxisome-deficient disorders by immunofluorescence staining and characterization of fused cells","volume":"88","author":"Yajima","year":"1992","journal-title":"Hum Genet"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707642475?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707642475?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2022,6,22]],"date-time":"2022-06-22T00:54:41Z","timestamp":1655859281000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707642475"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1997,6]]},"references-count":21,"journal-issue":{"issue":"6","published-print":{"date-parts":[[1997,6]]}},"alternative-id":["S0002929707642475"],"URL":"https:\/\/doi.org\/10.1016\/s0002-9297(07)64247-5","relation":{},"ISSN":["0002-9297"],"issn-type":[{"type":"print","value":"0002-9297"}],"subject":[],"published":{"date-parts":[[1997,6]]}}}