{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T18:49:26Z","timestamp":1790707766776,"version":"4.1.0"},"reference-count":55,"publisher":"Hindawi Limited","issue":"4","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":4725,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum. Mutat."],"published-print":{"date-parts":[[2002,10]]},"DOI":"10.1002\/humu.10124","type":"journal-article","created":{"date-parts":[[2002,10,9]],"date-time":"2002-10-09T04:14:17Z","timestamp":1034136857000},"page":"284-297","source":"Crossref","is-referenced-by-count":118,"title":["Mutation analysis ofPEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype"],"prefix":"10.1155","volume":"20","author":[{"given":"Nancy","family":"Braverman","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cassandra","family":"Obie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gary","family":"Steel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pamela","family":"Douglas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pranesh K.","family":"Chakraborty","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joe T.R.","family":"Clarke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Avihu","family":"Boneh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ann","family":"Moser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hugo","family":"Moser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Valle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"98","published-online":{"date-parts":[[2002,9,24]]},"reference":[{"key":"BIB1","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1203\/00006450-199909000-00017","volume":"46","author":"Appelkvist","year":"1999","journal-title":"Pediatr Res"},{"key":"BIB2","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1002\/(SICI)1096-8628(19960315)62:2<164::AID-AJMG9>3.0.CO;2-W","volume":"62","author":"Barth","year":"1996","journal-title":"Am J Med Genet"},{"key":"BIB3","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1038\/ng0497-369","volume":"15","author":"Braverman","year":"1997","journal-title":"Nat Genet"},{"key":"BIB4","doi-asserted-by":"crossref","first-page":"1195","DOI":"10.1093\/hmg\/7.8.1195","volume":"7","author":"Braverman","year":"1998","journal-title":"Hum Mol Genet"},{"key":"BIB5","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1006\/geno.1999.6080","volume":"63","author":"Braverman","year":"2000","journal-title":"Genomics"},{"key":"BIB6","volume":"69S","author":"Chakraborty","year":"2001","journal-title":"AJHG"},{"key":"BIB7","doi-asserted-by":"crossref","first-page":"6317","DOI":"10.1128\/MCB.14.9.6317","volume":"14","author":"Cheng","year":"1994","journal-title":"Mol Cell Biol"},{"key":"BIB8","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1007\/BF00711430","volume":"18","author":"Dacremont","year":"1995","journal-title":"J Inherit Metab Dis"},{"key":"BIB9","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1007\/BF00711431","volume":"18","author":"Dacremont","year":"1995","journal-title":"J Inherit Metab Dis"},{"key":"BIB10","doi-asserted-by":"crossref","first-page":"680","DOI":"10.1126\/science.8430317","volume":"259","author":"Dietz","year":"1993","journal-title":"Science"},{"key":"BIB11","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1083\/jcb.135.1.1","volume":"135","author":"Distel","year":"1996","journal-title":"J Cell Biol"},{"key":"BIB12","doi-asserted-by":"crossref","first-page":"1091","DOI":"10.1038\/81930","volume":"7","author":"Gatto","year":"2000","journal-title":"Nat Struct Biol"},{"key":"BIB13","doi-asserted-by":"crossref","first-page":"3151","DOI":"10.1073\/pnas.91.8.3151","volume":"91","author":"Gietl","year":"1994","journal-title":"Proc Natl Acad Sci USA"},{"key":"BIB14","first-page":"3181","volume-title":"The metabolic and molecular bases of inherited disease","author":"Gould","year":"2001","unstructured":"2001. The peroxisome biogenesis disorders. In editors. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill. pp 3181-3219."},{"key":"BIB15","doi-asserted-by":"crossref","first-page":"1657","DOI":"10.1083\/jcb.108.5.1657","volume":"108","author":"Gould","year":"1989","journal-title":"J Cell Biol"},{"key":"BIB16","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1093\/emboj\/20.1.118","volume":"20","author":"Holm","year":"2001","journal-title":"Embo J"},{"key":"BIB17","doi-asserted-by":"crossref","first-page":"829","DOI":"10.1007\/BF01957935","volume":"151","author":"Hughes","year":"1992","journal-title":"Eur J Pediatr"},{"key":"BIB18","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1038\/ng1097-190","volume":"17","author":"Jansen","year":"1997","journal-title":"Nat Genet"},{"key":"BIB19","doi-asserted-by":"crossref","first-page":"2949","DOI":"10.1091\/mbc.9.10.2949","volume":"9","author":"Jin","year":"1998","journal-title":"Mol Biol Cell"},{"key":"BIB20","doi-asserted-by":"crossref","first-page":"6023","DOI":"10.1128\/MCB.17.10.6023","volume":"17","author":"Komachi","year":"1997","journal-title":"Mol Cell Biol"},{"key":"BIB21","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1093\/nar\/12.2.857","volume":"12","author":"Kozak","year":"1984","journal-title":"Nucleic Acids Res"},{"key":"BIB22","doi-asserted-by":"crossref","first-page":"16265","DOI":"10.1074\/jbc.273.26.16265","volume":"273","author":"Li","year":"1998","journal-title":"J Biol Chem"},{"key":"BIB23","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1038\/ng1097-185","volume":"17","author":"Mihalik","year":"1997","journal-title":"Nat Genet"},{"key":"BIB24","volume":"59S","author":"Moser","year":"1996","journal-title":"AJHG"},{"key":"BIB25","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1016\/S0022-3476(95)70250-4","volume":"127","author":"Moser","year":"1995","journal-title":"J Pediatr"},{"key":"BIB26","volume":"42","author":"Moser","year":"1997","journal-title":"Ann Neurol"},{"key":"BIB27","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1083\/jcb.125.4.755","volume":"125","author":"Motley","year":"1994","journal-title":"J Cell Biol"},{"key":"BIB28","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1038\/ng0497-377","volume":"15","author":"Motley","year":"1997","journal-title":"Nat Genet"},{"key":"BIB29","doi-asserted-by":"crossref","first-page":"612","DOI":"10.1086\/338998","volume":"70","author":"Motley","year":"2002","journal-title":"Am J Hum Genet"},{"key":"BIB30","doi-asserted-by":"crossref","first-page":"9548","DOI":"10.1074\/jbc.M108635200","volume":"277","author":"Mukai","year":"2002","journal-title":"J Biol Chem"},{"key":"BIB31","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1038\/371297a0","volume":"371","author":"Neer","year":"1994","journal-title":"Nature"},{"key":"BIB32","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1038\/88099","volume":"19","author":"Noensie","year":"2001","journal-title":"Nat Biotechnol"},{"key":"BIB33","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1007\/BF00735395","volume":"17","author":"Nuoffer","year":"1994","journal-title":"J Inherit Metab Dis"},{"key":"BIB34","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/S1388-1981(00)00139-6","volume":"1529","author":"Olivier","year":"2000","journal-title":"Biochim Biophys Acta"},{"key":"BIB35","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1128\/MCB.18.1.388","volume":"18","author":"Otera","year":"1998","journal-title":"Mol Cell Biol"},{"key":"BIB36","doi-asserted-by":"crossref","first-page":"28298","DOI":"10.1074\/jbc.273.43.28298","volume":"273","author":"Panchenko","year":"1998","journal-title":"J Biol Chem"},{"key":"BIB37","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1007\/BF01811703","volume":"14","author":"Poll-The","year":"1991","journal-title":"J Inherit Metab Dis"},{"key":"BIB38","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1038\/ng0497-381","volume":"15","author":"Purdue","year":"1997","journal-title":"Nat Genet"},{"key":"BIB39","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1016\/S1388-1981(00)00047-0","volume":"1486","author":"Seedorf","year":"2000","journal-title":"Biochim Biophys Acta"},{"key":"BIB40","doi-asserted-by":"crossref","first-page":"7155","DOI":"10.1093\/nar\/15.17.7155","volume":"15","author":"Shapiro","year":"1987","journal-title":"Nucleic Acids Res"},{"key":"BIB41","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1007\/s100380050123","volume":"44","author":"Shimozawa","year":"1999","journal-title":"J Hum Genet"},{"key":"BIB42","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1038\/ng0198-45","volume":"18","author":"Siffert","year":"1998","journal-title":"Nat Genet"},{"key":"BIB43","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1007\/BF02435981","volume":"15","author":"Smeitink","year":"1992","journal-title":"J Inherit Metab Dis"},{"key":"BIB44","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1016\/S0968-0004(99)01384-5","volume":"24","author":"Smith","year":"1999","journal-title":"Trends Biochem Sci"},{"key":"BIB45","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1038\/379369a0","volume":"379","author":"Sondek","year":"1996","journal-title":"A resolution. Nature"},{"key":"BIB46","doi-asserted-by":"crossref","first-page":"3016","DOI":"10.1093\/emboj\/19.12.3016","volume":"19","author":"Sprague","year":"2000","journal-title":"Embo J"},{"key":"BIB47","doi-asserted-by":"crossref","first-page":"502","DOI":"10.1002\/(SICI)1096-8628(19990827)85:5<502::AID-AJMG14>3.0.CO;2-T","volume":"85","author":"Steinberg","year":"1999","journal-title":"Am J Med Genet"},{"key":"BIB48","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1101\/SQB.1966.031.01.014","volume":"31","author":"Streisinger","year":"1966","journal-title":"Cold Spring Harb Symp Quant Biol"},{"key":"BIB49","doi-asserted-by":"crossref","first-page":"3255","DOI":"10.1002\/j.1460-2075.1991.tb04889.x","volume":"10","author":"Swinkels","year":"1991","journal-title":"Embo J"},{"key":"BIB50","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1016\/S0014-5793(99)00968-0","volume":"456","author":"Thai","year":"1999","journal-title":"FEBS Lett"},{"key":"BIB51","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1016\/S1388-1981(01)00108-1","volume":"1532","author":"Vanhorebeek","year":"2001","journal-title":"Biochim Biophys Acta"},{"key":"BIB52","doi-asserted-by":"crossref","first-page":"1047","DOI":"10.1016\/0092-8674(95)90220-1","volume":"83","author":"Wall","year":"1995","journal-title":"Cell"},{"key":"BIB53","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1007\/BF02435984","volume":"15","author":"Wanders","year":"1992","journal-title":"J Inher Metab Dis"},{"key":"BIB54","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1007\/BF00711817","volume":"17","author":"Wanders","year":"1994","journal-title":"J Inher Metab Dis"},{"key":"BIB55","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1038\/sj.ejhg.5200511","volume":"8","author":"Wierzbicki","year":"2000","journal-title":"Eur J Hum Genet"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.10124","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/humu.10124","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:53:46Z","timestamp":1672332826000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.10124"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,9,24]]},"references-count":55,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2002,10]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.10124","relation":{},"ISSN":["1059-7794","1098-1004"],"issn-type":[{"value":"1059-7794","type":"print"},{"value":"1098-1004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,9,24]]}}}