{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T06:06:16Z","timestamp":1791266776135,"version":"4.1.0"},"reference-count":154,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2001,6,22]],"date-time":"2001-06-22T00:00:00Z","timestamp":993168000000},"content-version":"vor","delay-in-days":113,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2001,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>In mammalian cells, mitochondria provide energy from aerobic metabolism. They play an important regulatory role in apoptosis, produce and detoxify free radicals, and serve as a cellular calcium buffer. Neurodegenerative disorders involving mitochondria can be divided into those caused by oxidative phosphorylation (OXPHOS) abnormalities either due to mitochondrial DNA (mtDNA) abnormalities, e.g., chronic external ophthalmoplegia, or due to nuclear mutations of OXPHOS proteins, e.g., complex I and II associated with Leigh syndrome. There are diseases caused by nuclear genes encoding non\u2010OXPHOS mitochondrial proteins, such as frataxin in Friedreich ataxia (which is likely to play an important role in mitochondrial\u2010cytosolic iron cycling), paraplegin (possibly a mitochondrial ATP\u2010dependent zinc metalloprotease of the AAA\u2010ATPases in hereditary spastic paraparesis), and possibly Wilson disease protein (an abnormal copper transporting ATP\u2010dependent P\u2010type ATPase associated with Wilson disease). Huntingon disease is an example of diseases with OXPHOS defects associated with mutations of nuclear genes encoding non\u2010mitochondrial proteins such as huntingtin. There are also disorders with evidence of mitochondrial involvement that cannot as yet be assigned. These include Parkinson disease (where a complex I defect is described and free radicals are generated from dopamine metabolism), amyotrophic lateral sclerosis, and Alzheimer disease, where there is evidence to suggest mitochondrial involvement perhaps secondary to other abnormalities. \u00a9 2001 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1425","type":"journal-article","created":{"date-parts":[[2002,10,6]],"date-time":"2002-10-06T11:25:39Z","timestamp":1033903539000},"page":"27-36","source":"Crossref","is-referenced-by-count":211,"title":["Mitochondria and degenerative disorders"],"prefix":"10.1002","volume":"106","author":[{"given":"M.","family":"Orth","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.H.V.","family":"Schapira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2002,10,23]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/303056"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1471-4159.2000.0750840.x"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(200004)47:4<447::AID-ANA7>3.0.CO;2-R"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410430321"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.276.5319.1709"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1471-4159.1999.0731127.x"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/81834"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.5.381"},{"key":"e_1_2_7_10_1","doi-asserted-by":"crossref","first-page":"3234","DOI":"10.1074\/jbc.270.7.3234","article-title":"Superoxide dismutase 1 subunits with mutations linked to familial amyotrophic lateral sclerosis do not affect wild\u2010type subunit function","volume":"17","author":"Borchelt DR","year":"1995","journal-title":"J Biol Chem"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(199911)46:5<787::AID-ANA17>3.0.CO;2-8"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1095-144"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.2.275"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410410514"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.271.5254.1423"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.11.1771"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0014-5793(97)01051-X"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.20-01-00240.2000"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81203-9"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0169-328X(96)00191-X"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.275.7.5065"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.94.10.4890"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1096\/fj.00-0129com"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)80513-9"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.94.9.4526"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1086\/301930"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/79936"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.870090115"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1097\/00001756-200008030-00032"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.277.5334.1990"},{"key":"e_1_2_7_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1392"},{"key":"e_1_2_7_32_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00867594"},{"key":"e_1_2_7_33_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019052-199708000-00006"},{"key":"e_1_2_7_34_1","first-page":"188","article-title":"Autosomal dominant spastic paraplegia: tight linkage to chromosome 15q","volume":"56","author":"Fink JK","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_35_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0014-5793(99)00961-8"},{"key":"e_1_2_7_36_1","doi-asserted-by":"publisher","DOI":"10.1038\/40299"},{"key":"e_1_2_7_37_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1471-4159.1999.0731175.x"},{"key":"e_1_2_7_38_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320450610"},{"key":"e_1_2_7_39_1","doi-asserted-by":"publisher","DOI":"10.1038\/349704a0"},{"key":"e_1_2_7_40_1","first-page":"21","article-title":"Evidence of neuronal oxidative damage in Alzheimer's disease","volume":"149","author":"Good PF","year":"1996","journal-title":"Am J Pathol"},{"key":"e_1_2_7_41_1","first-page":"633","article-title":"Oxidative pathways for catecholamines in the genesis of neuromelanin and cytotoxic quinones","volume":"14","author":"Graham DG","year":"1978","journal-title":"Mol Pharmacol"},{"key":"e_1_2_7_42_1","first-page":"644","article-title":"Autooxidation versus covalent binding of quinones as the mechanism of toxicity of dopamine, 6\u2010hydroxydopamine and related compounds toward C1300 neuroblastoma cell in\u2010vitro","volume":"14","author":"Graham DG","year":"1978","journal-title":"Mol Phamacol"},{"key":"e_1_2_7_43_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410390317"},{"key":"e_1_2_7_44_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-510X(98)00095-1"},{"key":"e_1_2_7_45_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(00)02556-3"},{"key":"e_1_2_7_46_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.8209258"},{"key":"e_1_2_7_47_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.19-07-02522.1999"},{"key":"e_1_2_7_48_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0950-3536(89)80017-4"},{"key":"e_1_2_7_49_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/104.3.589"},{"key":"e_1_2_7_50_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.18.6.436"},{"key":"e_1_2_7_51_1","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(91)91921-X"},{"key":"e_1_2_7_52_1","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(92)92300-M"},{"key":"e_1_2_7_53_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1093-163"},{"key":"e_1_2_7_54_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.9.1569"},{"key":"e_1_2_7_55_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.8.1263"},{"key":"e_1_2_7_56_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.94.26.14894"},{"key":"e_1_2_7_57_1","doi-asserted-by":"publisher","DOI":"10.1196\/annals.1344.054"},{"key":"e_1_2_7_58_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.272.34.21461"},{"key":"e_1_2_7_59_1","doi-asserted-by":"crossref","first-page":"971","DOI":"10.1016\/0092-8674(93)90585-E","article-title":"A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes","volume":"72","author":"Huntington's Disease Collaborative Group","year":"1993","journal-title":"Cell"},{"key":"e_1_2_7_60_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.50.5.1357"},{"key":"e_1_2_7_61_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0794-402"},{"key":"e_1_2_7_62_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1471-4159.2000.741158.x"},{"key":"e_1_2_7_63_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198604103141506"},{"key":"e_1_2_7_64_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1007008417342"},{"key":"e_1_2_7_65_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.1992.tb09439.x"},{"key":"e_1_2_7_66_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1471-4159.1999.0720700.x"},{"key":"e_1_2_7_67_1","doi-asserted-by":"publisher","DOI":"10.1038\/33416"},{"key":"e_1_2_7_68_1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1523\/JNEUROSCI.20-01-00001.2000","article-title":"Mice deficient in cellular glutathion peroxidase show increased vulnerability to malonate, 3\u2010nitropropionic acid, and 1\u2010methyl\u20104\u2010phenyl\u20101,2,5,6\u2010tetrahydropyridine","volume":"20","author":"Klivenyi P","year":"2000","journal-title":"J Neurosci"},{"key":"e_1_2_7_69_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.96.5.2141"},{"key":"e_1_2_7_70_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.18-09-03241.1998"},{"key":"e_1_2_7_71_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410410206"},{"key":"e_1_2_7_72_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.870120504"},{"key":"e_1_2_7_73_1","doi-asserted-by":"publisher","DOI":"10.1007\/s100480050029"},{"key":"e_1_2_7_74_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.277.5325.559"},{"key":"e_1_2_7_75_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0897-345"},{"key":"e_1_2_7_76_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0298-106"},{"key":"e_1_2_7_77_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1471-4159.2000.0751709.x"},{"key":"e_1_2_7_78_1","doi-asserted-by":"publisher","DOI":"10.1017\/S0317167100022927"},{"key":"e_1_2_7_79_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.6823561"},{"key":"e_1_2_7_80_1","doi-asserted-by":"publisher","DOI":"10.1038\/26652"},{"key":"e_1_2_7_81_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.7638622"},{"key":"e_1_2_7_82_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.7.1227"},{"key":"e_1_2_7_83_1","doi-asserted-by":"publisher","DOI":"10.1038\/78054"},{"key":"e_1_2_7_84_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970110)68:1<1::AID-AJMG1>3.0.CO;2-V"},{"key":"e_1_2_7_85_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.96.20.11492"},{"key":"e_1_2_7_86_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.1001"},{"key":"e_1_2_7_87_1","doi-asserted-by":"publisher","DOI":"10.1086\/302154"},{"key":"e_1_2_7_88_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.95.11.6004"},{"key":"e_1_2_7_89_1","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(90)92242-A"},{"key":"e_1_2_7_90_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-199905000-00005"},{"key":"e_1_2_7_91_1","first-page":"111","article-title":"Mitochondrial tRNA(Gln) and tRNA(Thr) gene variants in Parkinson's disease","volume":"24","author":"Mayr\u2010Wohlfart U","year":"1997","journal-title":"Eur J Med Res"},{"key":"e_1_2_7_92_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1471-4159.1998.70062406.x"},{"key":"e_1_2_7_93_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410340416"},{"key":"e_1_2_7_94_1","doi-asserted-by":"publisher","DOI":"10.1002\/jnr.490260405"},{"key":"e_1_2_7_95_1","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(87)90664-4"},{"key":"e_1_2_7_96_1","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1995.1510"},{"key":"e_1_2_7_97_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0969-2126(00)00158-1"},{"key":"e_1_2_7_98_1","doi-asserted-by":"publisher","DOI":"10.1002\/hep.510270323"},{"key":"e_1_2_7_99_1","doi-asserted-by":"publisher","DOI":"10.1016\/0024-3205(85)90146-8"},{"key":"e_1_2_7_100_1","doi-asserted-by":"publisher","DOI":"10.1038\/15513"},{"key":"e_1_2_7_101_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.45.3.482"},{"key":"e_1_2_7_102_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.40.8.1302"},{"key":"e_1_2_7_103_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.44.6.1090"},{"key":"e_1_2_7_104_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199301213280305"},{"key":"e_1_2_7_105_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-8993(00)02082-5"},{"key":"e_1_2_7_106_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0304-3940(99)00578-9"},{"key":"e_1_2_7_107_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.56.2.175"},{"key":"e_1_2_7_108_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.276.5321.2045"},{"key":"e_1_2_7_109_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.274.8.4497"},{"key":"e_1_2_7_110_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1398"},{"key":"e_1_2_7_111_1","doi-asserted-by":"crossref","first-page":"7585","DOI":"10.1016\/S0021-9258(19)57434-8","article-title":"Energy dependent uptake of N\u2010methyl\u20104\u2010phenylpyridinium, the neurotoxic metabolite of 1\u2010methyl\u20104phenyl 1,2,3,6 tetrahydropyridine, by mitochondria","volume":"261","author":"Ramsay RR","year":"1986","journal-title":"J Biol Chem"},{"key":"e_1_2_7_112_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0596-43"},{"key":"e_1_2_7_113_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.6.499"},{"key":"e_1_2_7_114_1","doi-asserted-by":"publisher","DOI":"10.1038\/376775a0"},{"key":"e_1_2_7_115_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1097-215"},{"key":"e_1_2_7_116_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(99)01341-0"},{"key":"e_1_2_7_117_1","first-page":"197","article-title":"A marker of oxydoradical\u2010mediated DNA damage (8\u2010hydroxy\u20102\u2032deoxyguanosine) is increased in nigro\u2010striatum of Parkinson's disease brain","volume":"3","author":"Sanchez\u2010Ramos J","year":"1994","journal-title":"Neurodegeneration"},{"key":"e_1_2_7_118_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(90)90221-8"},{"key":"e_1_2_7_119_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0394-257"},{"key":"e_1_2_7_120_1","doi-asserted-by":"publisher","DOI":"10.1038\/13518"},{"key":"e_1_2_7_121_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0016-5085(99)70288-X"},{"key":"e_1_2_7_122_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.1990.tb05809.x"},{"key":"e_1_2_7_123_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410440714"},{"key":"e_1_2_7_124_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.3.397"},{"key":"e_1_2_7_125_1","doi-asserted-by":"publisher","DOI":"10.1038\/6772"},{"key":"e_1_2_7_126_1","doi-asserted-by":"publisher","DOI":"10.1038\/375754a0"},{"key":"e_1_2_7_127_1","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(199912)46:6<920::AID-ANA17>3.0.CO;2-R"},{"key":"e_1_2_7_128_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1378"},{"key":"e_1_2_7_129_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410390210"},{"key":"e_1_2_7_130_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.54.3.703"},{"key":"e_1_2_7_131_1","doi-asserted-by":"publisher","DOI":"10.1038\/382120b0"},{"key":"e_1_2_7_132_1","doi-asserted-by":"publisher","DOI":"10.1016\/0016-5085(90)90627-D"},{"key":"e_1_2_7_133_1","doi-asserted-by":"publisher","DOI":"10.1016\/0016-5085(94)90822-2"},{"key":"e_1_2_7_134_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.67"},{"key":"e_1_2_7_135_1","doi-asserted-by":"publisher","DOI":"10.1002\/hep.1840160319"},{"key":"e_1_2_7_136_1","doi-asserted-by":"publisher","DOI":"10.1002\/hep.1840220626"},{"key":"e_1_2_7_137_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410400417"},{"key":"e_1_2_7_138_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.49.4.918"},{"key":"e_1_2_7_139_1","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1999.1095"},{"key":"e_1_2_7_140_1","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(199901)45:1<25::AID-ART6>3.0.CO;2-E"},{"key":"e_1_2_7_141_1","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(200001)47:1<80::AID-ANA13>3.0.CO;2-K"},{"key":"e_1_2_7_142_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(91)90046-A"},{"key":"e_1_2_7_143_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.281.4.341"},{"key":"e_1_2_7_144_1","doi-asserted-by":"publisher","DOI":"10.1086\/302150"},{"key":"e_1_2_7_145_1","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(199906)45:6<787::AID-ANA13>3.0.CO;2-6"},{"key":"e_1_2_7_146_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1397"},{"key":"e_1_2_7_147_1","doi-asserted-by":"publisher","DOI":"10.1086\/321202"},{"key":"e_1_2_7_148_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.8.1245"},{"key":"e_1_2_7_149_1","doi-asserted-by":"publisher","DOI":"10.1086\/301716"},{"key":"e_1_2_7_150_1","doi-asserted-by":"publisher","DOI":"10.1006\/exnr.1998.6832"},{"key":"e_1_2_7_151_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.94.26.14900"},{"key":"e_1_2_7_152_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1157.1997.tb01741.x"},{"key":"e_1_2_7_153_1","doi-asserted-by":"publisher","DOI":"10.1016\/0896-6273(95)90259-7"},{"key":"e_1_2_7_154_1","doi-asserted-by":"publisher","DOI":"10.1016\/0166-2236(89)90165-3"},{"key":"e_1_2_7_155_1","doi-asserted-by":"publisher","DOI":"10.1038\/3798"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1425","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1425","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,13]],"date-time":"2023-09-13T01:56:02Z","timestamp":1694570162000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1425"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,3]]},"references-count":154,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2001,3]]}},"alternative-id":["10.1002\/ajmg.1425"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1425","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[2001,3]]}}}