{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T00:13:44Z","timestamp":1760832824848,"version":"build-2065373602"},"reference-count":6,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1986,6]]},"abstract":"<jats:p>A family is presented in which the mother has transmitted primary hypoparathyroidism with early onset and serum PTH (44-68) and C terminal deficiency to her two sons. Restriction enzyme analysis of allelic variation at the PTH gene locus revealed that the disease and the PTH alleles segregate independently. It is therefore concluded that the primary molecular defect leading to this form of hypoparathyroidism is not located within the PTH gene itself.<\/jats:p>","DOI":"10.1136\/jmg.23.3.217","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"217-219","source":"Crossref","is-referenced-by-count":9,"title":["Exclusion of close linkage between the parathyroid hormone gene and a mutant gene locus causing idiopathic hypoparathyroidism."],"prefix":"10.1136","volume":"23","author":[{"given":"J","family":"Schmidtke","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K","family":"Kruse","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B","family":"Pape","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Sippell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1986,6,1]]},"reference":[{"key":"ref_1","article-title":"Mendelian inheritance in man","author":"McKusick, V.A.","year":"1983","unstructured":"McKusick VA. Mendelian inheritance in man. Baltimore, London: Johns Hopkins University Press, 1983."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1007\/BF00293024","article-title":"An estimate of unique DNA sequence heterozygosity in the human genome","volume":"69","author":"Cooper, D.N.; Smith, B.A.; Cooke, H.J.; Niemann, S.; Schmidtke, J.","year":"1985","unstructured":"Cooper DN, Smith BA, Cooke HJ, Niemann S, Schmidtke J. An estimate of unique DNA sequence heterozygosity in the human genome. Humni Genet 1985;69:201-5.","journal-title":"Humni Genet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1016\/S0022-2836(75)80083-0","article-title":"Detection of specific sequences among DNA fragments separated by gel electrophoresis","volume":"98","author":"Southem, E.M.","year":"1975","unstructured":"Southem EM. Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol 1975;98: 503-17.","journal-title":"J Mol Biol"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1007\/BF00279412","article-title":"Assignment of the human parathyroid hormone gene to chromosome 11","volume":"64","author":"Mayer, H.; Breyel, E.; Bostock, C.; Schmidtke, J.","year":"1983","unstructured":"Mayer H, Breyel E, Bostock C, Schmidtke J. Assignment of the human parathyroid hormone gene to chromosome 11. Hum Genet 1983;64:283-5.","journal-title":"Hum Genet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"428","DOI":"10.1007\/BF00291404","article-title":"Restriction fragment length polymorphisms at the human parathyroid hormone gene locus","volume":"67","author":"Schmidtke, J.; Pape, B.; Krengel, U.","year":"1984","unstructured":"Schmidtke J, Pape B, Krengel U, et al. Restriction fragment length polymorphisms at the human parathyroid hormone gene locus. Humii Genet 1984;67:428-31.","journal-title":"Humii Genet"},{"key":"ref_6","first-page":"6615","article-title":"et al.f-globin locus is linked to the parathyroid hormone (PTH) locus and lies between the insulin and","volume-title":"PTH loci in man. Proc Natl Ac-ad Sci USA","volume":"80","author":"JA, Antonarakis S.E.Phillips; RL, Mallone","year":"1983","unstructured":"Antonarakis SE. Phillips JA, Mallone RL, et al.f-globin locus is linked to the parathyroid hormone (PTH) locus and lies between the insulin and PTH loci in man. Proc Natl Ac-ad Sci USA 1983;80:6615-9."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.23.3.217","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T05:41:47Z","timestamp":1760766107000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.23.3.217"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1986,6]]},"references-count":6,"journal-issue":{"issue":"3","published-online":{"date-parts":[[1986,6,1]]},"published-print":{"date-parts":[[1986,6]]}},"alternative-id":["10.1136\/jmg.23.3.217"],"URL":"https:\/\/doi.org\/10.1136\/jmg.23.3.217","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1986,6]]}}}