{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T21:27:34Z","timestamp":1790976454178,"version":"4.1.0"},"reference-count":60,"publisher":"American Association for the Advancement of Science (AAAS)","issue":"5426","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Science"],"published-print":{"date-parts":[[1999,7,16]]},"abstract":"<jats:p>\n            Intervertebral disc disease is one of the most common musculoskeletal disorders. A number of environmental and anthropometric risk factors may contribute to it, and recent reports have suggested the importance of genetic factors as well. The\n            <jats:italic>COL9A2<\/jats:italic>\n            gene, which codes for one of the polypeptide chains of collagen IX that is expressed in the intervertebral disc, was screened for sequence variations in individuals with intervertebral disc disease. The analysis identified a putative disease-causing sequence variation that converted a codon for glutamine to one for tryptophan in six out of the 157 individuals but in none of 174 controls. The tryptophan allele cosegregated with the disease phenotype in the four families studied, giving a lod score (logarithm of odds ratio) for linkage of 4.5, and subsequent linkage disequilibrium analysis conditional on linkage gave an additional lod score of 7.1.\n          <\/jats:p>","DOI":"10.1126\/science.285.5426.409","type":"journal-article","created":{"date-parts":[[2002,7,27]],"date-time":"2002-07-27T09:42:20Z","timestamp":1027762940000},"page":"409-412","source":"Crossref","is-referenced-by-count":300,"title":["An Allele of\n            <i>COL9A2<\/i>\n            Associated with Intervertebral Disc Disease"],"prefix":"10.1126","volume":"285","author":[{"given":"Susanna","family":"Annunen","sequence":"first","affiliation":[{"name":"Collagen Research Unit, Biocenter and Department of Medical Biochemistry;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petteri","family":"Paassilta","sequence":"additional","affiliation":[{"name":"Collagen Research Unit, Biocenter and Department of Medical Biochemistry;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaana","family":"Lohiniva","sequence":"additional","affiliation":[{"name":"Collagen Research Unit, Biocenter and Department of Medical Biochemistry;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Merja","family":"Pera\u0308la\u0308","sequence":"additional","affiliation":[{"name":"Collagen Research Unit, Biocenter and Department of Medical Biochemistry;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tero","family":"Pihlajamaa","sequence":"additional","affiliation":[{"name":"Collagen Research Unit, Biocenter and Department of Medical Biochemistry;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaro","family":"Karppinen","sequence":"additional","affiliation":[{"name":"Department of Physical Medicine and Rehabilitation;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Osmo","family":"Tervonen","sequence":"additional","affiliation":[{"name":"Diagnostic Radiology;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heikki","family":"Kro\u0308ger","sequence":"additional","affiliation":[{"name":"Department of Surgery, University of Kuopio, 70211 Kuopio, Finland."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seppo","family":"La\u0308hde","sequence":"additional","affiliation":[{"name":"Diagnostic Radiology;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heikki","family":"Vanharanta","sequence":"additional","affiliation":[{"name":"Department of Physical Medicine and Rehabilitation;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lasse","family":"Ryha\u0308nen","sequence":"additional","affiliation":[{"name":"Internal Medicine, University of Oulu, 90220 Oulu, Finland."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harald H. H.","family":"Go\u0308ring","sequence":"additional","affiliation":[{"name":"Department of Genetics and Development, Columbia University, New York, NY 10032, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ju\u0308rg","family":"Ott","sequence":"additional","affiliation":[{"name":"Department of Genetics and Development, Columbia University, New York, NY 10032, USA."},{"name":"Laboratory of Statistical Genetics, Rockefeller University, New York, NY 10021, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Darwin J.","family":"Prockop","sequence":"additional","affiliation":[{"name":"Center for Gene Therapy, MCP Hahnemann University, Philadelphia, PA 19102, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leena","family":"Ala-Kokko","sequence":"additional","affiliation":[{"name":"Collagen Research Unit, Biocenter and Department of Medical Biochemistry;"},{"name":"Center for Gene Therapy, MCP Hahnemann University, Philadelphia, PA 19102, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"221","reference":[{"key":"e_1_3_1_2_2","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1136\/jech.41.3.251","volume":"41","author":"Heli\u00f6vaara M.","year":"1987","unstructured":"Heli\u00f6vaara M., et al., J. Epidemiol. Community Health 41, 251 (1987).","journal-title":"J. Epidemiol. Community Health"},{"key":"e_1_3_1_3_2","doi-asserted-by":"crossref","first-page":"257","DOI":"10.3109\/07853898909149202","volume":"21","author":"Heli\u00f6vaara M.","year":"1989","unstructured":"Heli\u00f6vaara M., Ann. Med. 21, 257 (1989).","journal-title":"Ann. Med."},{"key":"e_1_3_1_4_2","doi-asserted-by":"crossref","first-page":"2601","DOI":"10.1097\/00007632-199512150-00001","volume":"20","author":"Batti\u00e9 M. C.","year":"1995","unstructured":"Batti\u00e9 M. C., et al., Spine 20, 2601 (1995).","journal-title":"Spine"},{"key":"e_1_3_1_5_2","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1097\/00003086-197210000-00025","volume":"88","author":"Nelson C. L.","year":"1972","unstructured":"Nelson C. L., Janecki C. J., Gildenberg P. L., Sava G., Clin. Orthop. 88, 142 (1972);","journal-title":"Clin. Orthop."},{"key":"e_1_3_1_5_3","doi-asserted-by":"crossref","first-page":"124","DOI":"10.2106\/00004623-199173010-00016","volume":"73","author":"Varlotta G. P.","year":"1991","unstructured":"Varlotta G. P., Brown M. D., Kelsey J. L., Golden A. L., J. Bone Jt. Surg. Am. Vol. 73, 124 (1991) ;","journal-title":"J. Bone Jt. Surg. Am. Vol."},{"key":"e_1_3_1_5_4","doi-asserted-by":"crossref","first-page":"1323","DOI":"10.1097\/00007632-199211000-00011","volume":"17","author":"Matsui H.","year":"1992","unstructured":"Matsui H., Terahata N., Tsuji H., Hirano N., Naruse Y., Spine 17, 1323 (1992);","journal-title":"Spine"},{"key":"e_1_3_1_5_5","first-page":"371","volume":"59","author":"Scapinelli R.","year":"1993","unstructured":"Scapinelli R., Acta Orthop. Belgica 59, 371 (1993).","journal-title":"Acta Orthop. Belgica"},{"key":"e_1_3_1_6_2","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1016\/0005-2795(77)90211-2","volume":"492","author":"Eyre D. R.","year":"1977","unstructured":"Eyre D. R., Muir H., Biochim. Biophys. Acta 492, 29 (1977);","journal-title":"Biochim. Biophys. Acta"},{"key":"e_1_3_1_6_3","unstructured":"; J. P. G. Urban in Musculoskeletal Soft Tissue Aging: Impact on Mobility J. A. Buckwalter V. M. Goldberg S. L.-Y. Woo Eds. (American Academy of Orthopaedic Surgeons Rosemont IL 1993) pp. 391\u2013412;"},{"key":"e_1_3_1_6_4","doi-asserted-by":"crossref","first-page":"1307","DOI":"10.1097\/00007632-199506000-00022","volume":"20","author":"Buckwalter J. A.","year":"1995","unstructured":"Buckwalter J. A., Spine 20, 1307 (1995).","journal-title":"Spine"},{"key":"e_1_3_1_7_2","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1007\/s002640050058","volume":"20","author":"Kimura T.","year":"1996","unstructured":"Kimura T., et al., Int. Orthop. 20, 177 (1996).","journal-title":"Int. Orthop."},{"key":"e_1_3_1_8_2","doi-asserted-by":"crossref","first-page":"6943","DOI":"10.1073\/pnas.94.13.6943","volume":"94","author":"Watanabe H.","year":"1997","unstructured":"Watanabe H., Nakata K., Kimata K., Nakanishi I., Yamada Y., Proc. Natl. Acad. Sci. U.S.A. 94, 6943 (1997).","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"e_1_3_1_9_2","doi-asserted-by":"crossref","unstructured":"M. van der Rest and R. Mayne in Structure and Function of Collagen Types R. Mayne and S. E. Burgeson Eds. (Academic Press Orlando FL 1987) pp. 195\u2013221;","DOI":"10.1016\/B978-0-12-481280-2.50011-8"},{"key":"e_1_3_1_9_3","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1016\/0968-0004(91)90074-6","volume":"16","author":"Shaw L. M.","year":"1991","unstructured":"Shaw L. M., Olsen B. R., Trends Biochem. Sci. 16, 191 (1991) ;","journal-title":"Trends Biochem. 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J.","year":"1992","unstructured":"Wu J. J., Woods P. E., Eyre D. R., J. Biol. Chem. 267, 23007 (1992);","journal-title":"J. Biol. Chem."},{"key":"e_1_3_1_10_4","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1042\/bj3140327","volume":"314","author":"Diab M.","year":"1996","unstructured":"Diab M., Wu J. J., Eyre D. R., Biochem. J. 314, 327 (1996).","journal-title":"Biochem. J."},{"key":"e_1_3_1_11_2","unstructured":"MRI scans obtained with a 1.5-T imaging system (Signa General Electric) consisted of sagittal images with TR\/TE of 4000\/95 ms and axial images with TR\/TE of 640\/14 ms. CT images (Hi Speed Advantage GE Medical Systems) consisted of scans through the L2-L3 interspace to the L5-S1 interspace. All MRI and CT images were read by two experienced neuroradiologists blinded to the results of the mutation analysis and clinical history and physical status of the patient. Clinical assessment was also performed blinded to the results of the mutation analysis. The following radiological findings were considered as indications of intervertebral disc disease: (i) disc extrusion; (ii) any herniation at two or more levels; (iii) endplate degeneration at one or more levels in patients under 30 years old at two or more levels in patients 30 to 50 years old or at four or more levels in patients over 50 years old; or (iv) bulging or protrusion (or both) at four or more levels ["},{"key":"e_1_3_1_11_3","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1148\/radiology.209.3.9844656","volume":"209","author":"Weishaupt D.","year":"1998","unstructured":"Weishaupt D., Zanetti M., Hodler J., Boos N., Radiology 209, 661 (1998);","journal-title":"Radiology"},{"key":"e_1_3_1_11_4","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1056\/NEJM199407143310201","volume":"331","author":"Jensen M. C.","year":"1994","unstructured":"Jensen M. C., et al., N. Engl. J. Med. 331, 69 (1994)].","journal-title":"N. Engl. J. Med."},{"key":"e_1_3_1_12_2","unstructured":"Genomic DNA was extracted from blood leukocytes and used to screen for sequence variations in the COL9A2 gene by CSGE. PCR primers to amplify the exonic sequences and the flanking sequences were designed on the basis of the genomic sequences ["},{"key":"e_1_3_1_12_3","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1016\/S0945-053X(98)90063-4","volume":"17","author":"Pihlajamaa T.","year":"1998","unstructured":"Pihlajamaa T., et al., Matrix Biol. 17, 237 (1998);","journal-title":"Matrix Biol."},{"key":"e_1_3_1_12_4","unstructured":"] and PCR and CSGE analysis were performed as described ["},{"key":"e_1_3_1_12_5","doi-asserted-by":"crossref","first-page":"1681","DOI":"10.1073\/pnas.95.4.1681","volume":"95","author":"K\u00f6rkk\u00f6 J.","year":"1998","unstructured":"K\u00f6rkk\u00f6 J., Annunen S., Pihlajamaa T., Prockop D. J., Ala-Kokko L., Proc. Natl. Acad. Sci. U.S.A. 95, 1681 (1998)].","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"e_1_3_1_13_2","unstructured":"PCR products that contained heteroduplexes on the CSGE analysis were sequenced (T7 Sequenase PCR Product Sequencing Kit USB or ABI Prism 377 and dRhodamine Terminator Cycle Sequencing Ready Reaction Kit Perkin Elmer). Some of the PCR products were cloned and sequenced (T7 Sequencing Kit Pharmacia)."},{"key":"e_1_3_1_14_2","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1111\/j.1432-1033.1990.tb19279.x","volume":"192","author":"Muragaki Y.","year":"1990","unstructured":"Muragaki Y., Kimura T., Ninomiya Y., Olsen B. R., Eur. J. Biochem. 192, 703 (1990);","journal-title":"Eur. J. 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Chem."},{"key":"e_1_3_1_14_6","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/0945-053X(94)90024-8","volume":"14","author":"Rokos I.","year":"1994","unstructured":"Rokos I., Muragaki Y., Warman M., Olsen B. R., Matrix Biol. 14, 1 (1994).","journal-title":"Matrix Biol."},{"key":"e_1_3_1_15_2","unstructured":"Artificial pedigrees were created by coding two case or control individuals as the parents of a hypothetical offspring of unknown phenotype and genotype (15). Creating such pedigrees (that is triads) does not create false artificial information. Such pedigrees do not provide any linkage information whatsoever but they do give information about linkage disequilibrium just as if the unrelated case and control individuals were analyzed separately."},{"key":"e_1_3_1_16_2","doi-asserted-by":"crossref","first-page":"844","DOI":"10.1161\/01.HYP.33.3.844","volume":"33","author":"Kainulainen K.","year":"1999","unstructured":"Kainulainen K., et al., Hypertension 33, 844 (1999).","journal-title":"Hypertension"},{"key":"e_1_3_1_17_2","unstructured":"Linkage and linkage disequilibrium analyses were performed using the ILINK program of the FASTLINK software package ["},{"key":"e_1_3_1_17_3","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.81.11.3443"},{"key":"e_1_3_1_17_4","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1159\/000022781","volume":"48","author":"Becker A.","year":"1998","unstructured":"Becker A., Geiger D., Schaffer A. A., Hum. Hered. 48, 49 (1998)].","journal-title":"Hum. Hered."},{"key":"e_1_3_1_18_2","doi-asserted-by":"crossref","first-page":"720","DOI":"10.1006\/geno.1993.1253","volume":"16","author":"Hellsten E.","year":"1993","unstructured":"Hellsten E., et al., Genomics 16, 720 (1993);","journal-title":"Genomics"},{"key":"e_1_3_1_18_3","doi-asserted-by":"crossref","unstructured":"Tienari P. J. Terwilliger J. D. Ott J. Palo J. Peltonen L. 19 320 (1994);","DOI":"10.1006\/geno.1994.1064"},{"key":"e_1_3_1_18_4","unstructured":"; H. H. H. G\u00f6ring and J. D. Terwilliger in preparation."},{"key":"e_1_3_1_19_2","unstructured":"Pedigree members who tested positive for the disease in either the clinical or the radiological test were coded as affected and those testing negative in both tests were coded as unaffected. Individuals who were only examined by one method (clinical or radiological) and were found to be normal were coded as having unknown phenotypic status. Unexamined individuals including married-in spouses and deceased individuals from earlier generations were likewise coded as unknown in their phenotype."},{"key":"e_1_3_1_20_2","unstructured":"Z 1 = log[ L (\u03d1\u0302)\/ L (\u03d1 = 0.5)] is a test for linkage. [ L (\u03d1) denotes the likelihood as a function of the recombination fraction \u03d1.] The allele frequencies of the observed polymorphism were treated as nuisance parameters using \u201cprofile\u201d likelihoods [R. Royall Statistical Evidence: A Likelihood Paradigm (Chapman & Hall London 1997) pp. 158\u2013161]; that is the likelihood was maximized over these allele frequencies independently under the null hypothesis of no linkage and under the alternative hypothesis of linkage [(25) pp. 186\u2013187; H. H. H. G\u00f6ring and J. D. Terwilliger in preparation]. A lod score of 3 is generally considered to be significant ["},{"key":"e_1_3_1_20_3","first-page":"277","volume":"7","author":"Morton N. E.","year":"1955","unstructured":"Morton N. E., Am. J. Hum. Genet. 7, 277 (1955);","journal-title":"Am. J. Hum. Genet."},{"key":"e_1_3_1_20_4","unstructured":"] and asymptotically corresponds to a pointwise P value of 0.0001 ["},{"key":"e_1_3_1_20_5","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1111\/j.1469-1809.1984.tb00849.x","volume":"48","author":"Chotai J.","year":"1984","unstructured":"Chotai J., Ann. Hum. Genet. 48, 359 (1984)].","journal-title":"Ann. Hum. Genet."},{"key":"e_1_3_1_21_2","unstructured":"Affecteds-only analysis provides only little evidence for linkage (lod score 0.5) whereas the linkage disequilibrium results conditional on linkage remain significant (lod score 6.3) (data not shown). It is not that surprising however that the linkage lod score is reduced because much linkage information is provided by unaffected individuals when the disease is dominant with high penetrance. To avoid spurious results we only coded pedigree members as unaffected when they were found to be normal in two different diagnostic schemes as mentioned above."},{"key":"e_1_3_1_22_2","unstructured":"Z 2 = log[ L (\u03d1\u0302 \u03b4\u0302)\/ L (\u03d1\u0302 \u03b4 = 0)] is a test for linkage disequilibrium conditional on linkage. \u03b4 here denotes linkage disequilibrium. In the denominator [identical to the numerator of Z 1 (20) only written differently] the likelihood is maximized over the marker allele frequencies using ILINK as before. In the numerator the likelihood is maximized over the disease-marker haplotype frequencies keeping the marginal frequency of the disease-predisposing allele constant. This maximization was performed with the EH program [(25) pp. 200\u2013203] using only unrelated individuals as ILINK would have changed the marginal disease-allele frequency also. Although the haplotype frequencies estimated with the EH program may not be the maximum likelihood estimates this procedure is conservative in that the true maximum likelihood estimates are used in the denominator. This lod score has two degrees of freedom. (There are five free parameters in the numerator: \u03d1 and four haplotype frequencies the frequencies of the two remaining haplotypes being constrained by the marginal allele frequencies of the disease locus. There are three free parameters in the denominator: \u03d1 and two allele frequencies with the frequency of the remaining allele being constrained because the allele frequencies need to sum to 1.) For interpretation the P value for the observed lod score is given in the text."},{"key":"e_1_3_1_23_2","unstructured":"The evidence for linkage disequilibrium conditional on linkage using the whole data set (families and unrelated singletons) is much higher than if the case and control data had been analyzed separately. Using Fisher's \u201cexact\u201d test to test for equality of Trp allele frequencies among cases (6 of 314 chromosomes) and controls (0 of 348 chromosomes) only gives a P value of about 0.01. The reason for this apparent discrepancy is that in joint linkage and linkage disequilibrium analysis the linkage disequilibrium provides not only phase information for pedigree founders but also genotype information for untyped founders. For this reason joint analysis of linkage and linkage disequilibrium is often much more than the sum of the parts sometimes leading to much higher lod scores (15 17)."},{"key":"e_1_3_1_24_2","unstructured":"Z 3 = log[ L (\u03d1 = 0)\/ L (\u03d1 = 0.5)] is a test of complete linkage. In the denominator the likelihood was maximized over the allele frequencies of the polymorphism. In the numerator however the frequency of the Trp allele was fixed to be equal to the frequency of the disease-predisposing allele (because we wanted to test whether the Trp allele itself is a disease-causing allele) and the likelihood was maximized over the remaining allele frequencies of the polymorphism. Z 4 = log[ L (\u03d1 = 0 \u03b4 = complete)\/ L (\u03d1 = 0 \u03b4 = 0)] is a test of complete linkage disequilibrium conditional on complete linkage. In the denominator (identical to the numerator in Z 3 only written differently) the frequency of the Trp allele was set to be equal to the frequency of the disease allele and the likelihood maximized over the remaining marker allele frequencies. In the numerator complete linkage disequilibrium was assumed. In other words all Trp chromosomes carry the disease allele and vice versa and all non-Trp chromosomes carry the \u201cnormal\u201d allele at the disease locus and vice versa. The marginal frequency of the haplotype with the disease-predisposing allele was kept constant and the likelihood was maximized over the remaining haplotype frequencies using ILINK (16)."},{"key":"e_1_3_1_25_2","doi-asserted-by":"crossref","first-page":"393","DOI":"10.2307\/2531059","volume":"42","author":"Clerget-Darpoux F.","year":"1986","unstructured":"Clerget-Darpoux F., Bonaiti-Pellie C., Hochoz J., Biometrics 42, 393 (1986);","journal-title":"Biometrics"},{"key":"e_1_3_1_25_3","doi-asserted-by":"publisher","DOI":"10.1159\/000154047"},{"key":"e_1_3_1_25_4","unstructured":"; H. H. H. G\u00f6ring and J. D. Terwilliger in preparation."},{"key":"e_1_3_1_26_2","unstructured":"J. D. Terwilliger and J. Ott Handbook of Human Genetic Linkage (Johns Hopkins Univ. Press Baltimore MD 1994)."},{"key":"e_1_3_1_27_2","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1002\/gepi.1370070502","volume":"7","author":"Williamson J. A.","year":"1990","unstructured":"Williamson J. A., Amos C. I., Genet. Epidemiol. 7, 309 (1990).","journal-title":"Genet. Epidemiol."},{"key":"e_1_3_1_28_2","unstructured":"C. M. Kielty I. Hopkinson M. E. Grant in Connective Tissue and Its Heritable Disorders P. M. Royce and B. Steinmann Eds. (Wiley-Liss New York 1993) pp. 103\u2013147;"},{"key":"e_1_3_1_28_3","doi-asserted-by":"crossref","first-page":"22366","DOI":"10.1016\/S0021-9258(17)31798-2","volume":"269","author":"Nagan N.","year":"1994","unstructured":"Nagan N., Kagan H. M., J. Biol. Chem. 269, 22366 (1994).","journal-title":"J. Biol. Chem."},{"key":"e_1_3_1_29_2","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1038\/ng0196-103","volume":"12","author":"Muragaki Y.","year":"1996","unstructured":"Muragaki Y., et al., Nature Genet. 12, 103 (1996);","journal-title":"Nature Genet."},{"key":"e_1_3_1_29_3","doi-asserted-by":"crossref","first-page":"1036","DOI":"10.1086\/302328","volume":"64","author":"Paassilta P.","year":"1999","unstructured":"Paassilta P., et al., Am. J. Hum. Genet. 64, 1036 (1999).","journal-title":"Am. J. Hum. Genet."},{"key":"e_1_3_1_30_2","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1002\/(SICI)1098-1004(1997)9:4<300::AID-HUMU2>3.0.CO;2-9","volume":"9","author":"Kuivaniemi H.","year":"1997","unstructured":"Kuivaniemi H., Tromp G., Prockop D. J., Hum. Mutat. 9, 300 (1997).","journal-title":"Hum. Mutat."},{"key":"e_1_3_1_31_2","unstructured":"We thank J. D. Terwilliger for helpful comments and A. Harju for her expert technical assistance. Supported by grants from the Academy of Finland (L.A.-K. and M.P.) and the Arthritis Foundation (D.J.P.) and by NIH grants AR39740 (D.J.P.) and HG00008 (J.O.)."}],"container-title":["Science"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.science.org\/doi\/pdf\/10.1126\/science.285.5426.409","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,13]],"date-time":"2024-01-13T09:55:21Z","timestamp":1705139721000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.science.org\/doi\/10.1126\/science.285.5426.409"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1999,7,16]]},"references-count":60,"journal-issue":{"issue":"5426","published-print":{"date-parts":[[1999,7,16]]}},"alternative-id":["10.1126\/science.285.5426.409"],"URL":"https:\/\/doi.org\/10.1126\/science.285.5426.409","relation":{},"ISSN":["0036-8075","1095-9203"],"issn-type":[{"value":"0036-8075","type":"print"},{"value":"1095-9203","type":"electronic"}],"subject":[],"published":{"date-parts":[[1999,7,16]]}}}