{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T04:40:02Z","timestamp":1760762402472,"version":"build-2065373602"},"reference-count":7,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1975,9]]},"abstract":"<jats:p>We report the alpha1-antitrypsin phenotypes of 21 patients with sex chromosome mosaicism and their parents. The proportion of heterozygotes in the group of parents is significantly greater (p less than 0.01) than that proportion in both control groups. The maternal or paternal contribution to the statistical significance of this observation cannot be distinguished in our small sample of families.<\/jats:p>","DOI":"10.1136\/jmg.12.3.263","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"263-264","source":"Crossref","is-referenced-by-count":11,"title":["Alpha1-antitrypsin phenotypes in sex chromosome mosaicism."],"prefix":"10.1136","volume":"12","author":[{"given":"F","family":"Kueppers","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"O'Brien","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"Passarge","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H W","family":"R\u00fcdiger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1975,9,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1136\/jmg.7.4.367","article-title":"Protease inhibitor (Pi) phenotypes in chromosome aberrations","volume":"7","author":"Aarskog, D.; Fagerhol, M.K.","year":"1970","unstructured":"Aarskog, D. and Fagerhol, M. K. (1970). Protease inhibitor (Pi) phenotypes in chromosome aberrations. Journal of Medical Genetics, 7, 367-370.","journal-title":"Journal of Medical Genetics"},{"key":"ref_2","article-title":"Standardization in cytogenetics. Birth Defects: Original Article","volume":"2","author":"National Foundation -March of Dimes","year":"1966","unstructured":"Chicago Conference (1966). Standardization in cytogenetics. Birth Defects: Original Article Series, [l, 2. National Foundation -March of Dimes, New York.","journal-title":"Series"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1111\/j.1699-0463.1967.tb01310.x","article-title":"Serum Pi types in Norwegians","volume":"70","author":"Fagerhol, M.K.","year":"1967","unstructured":"Fagerhol, M. K. (1967). Serum Pi types in Norwegians. Acta Pathologica et Microbiologica Scandinavica, 70, 421-428.","journal-title":"Acta Pathologica et Microbiologica Scandinavica"},{"key":"ref_4","first-page":"96","article-title":"ThePisystem; inherited variants of serum a1-antitrypsin","volume-title":"Progress in Medical Genetics","volume":"7","author":"Fagerhol, M.K.; Laurell, C.B.","year":"1970","unstructured":"Fagerhol, M. K. and Laurell, C. B. (1970). ThePisystem; inherited variants of serum a1-antitrypsin. Progress in Medical Genetics, 7, 96-111."},{"key":"ref_5","first-page":"235","article-title":"Gene frequencies of red cell adenosine deaminase, adenylate kinase, phosphoglucomutase, acid phosphatase and serum alpha1-antitrypsin (Pi) in a German population","volume":"10","author":"Goedde, H.W.; Benkmann, H.G.; Christ, I.; Singh, S.; Hirth, L.","year":"1970","unstructured":"Goedde, H. W., Benkmann, H. G., Christ, I., Singh, S., and Hirth, L. (1970). Gene frequencies of red cell adenosine deaminase, adenylate kinase, phosphoglucomutase, acid phosphatase and serum alpha1-antitrypsin (Pi) in a German population. Humangenetik, 10, 235-243.","journal-title":"Humangenetik"},{"key":"ref_6","first-page":"54","article-title":"Immunologic assay of alpha1-antitrypsin in deficient subjects and their families","volume":"5","author":"Kueppers, F.","year":"1967","unstructured":"Kueppers, F. (1967). Immunologic assay of alpha1-antitrypsin in deficient subjects and their families. Humangenetik, 5, 54-58.","journal-title":"Humangenetik"},{"key":"ref_7","first-page":"177","article-title":"Alpha1-antitrypsin: Physiology, genetics, and pathology","volume":"11","author":"Kueppers, F.","year":"1971","unstructured":"Kueppers, F. (1971). Alpha1-antitrypsin: Physiology, genetics, and pathology. Humangenetik, 11, 177-189.","journal-title":"Humangenetik"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.12.3.263","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T04:15:07Z","timestamp":1760760907000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.12.3.263"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1975,9]]},"references-count":7,"journal-issue":{"issue":"3","published-online":{"date-parts":[[1975,9,1]]},"published-print":{"date-parts":[[1975,9]]}},"alternative-id":["10.1136\/jmg.12.3.263"],"URL":"https:\/\/doi.org\/10.1136\/jmg.12.3.263","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1975,9]]}}}