{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,27]],"date-time":"2023-10-27T19:59:03Z","timestamp":1698436743482},"reference-count":28,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,5,16]],"date-time":"2005-05-16T00:00:00Z","timestamp":1116201600000},"content-version":"vor","delay-in-days":3745,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1995,2,13]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>DNA polymorphisms (RFLPs) of the human complement component C6, C7, and C9 genes were studied in three C7\u2010deficient (C7D) families, one C6\u2010deficient (C6D) family, and one C9\u2010deficient (C9D) family. The 3 loci are closely linked on human chromosome 5. The haplotypes carrying the \u201csilent\u201d allele (C7*Q0, C6*Q0, and C9*Q0) were defined in each family, allowing for the detection of carriers among asymptomatic relatives. This paper describes familial studies on a type of hereditary trait, characterized by recurrent <jats:italic>Neisseria<\/jats:italic> infections in individuals homozygous for \u201csilent\u201d alleles at the C6, C7, or C9 loci. \u00a9 1995 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320550405","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:54:26Z","timestamp":1118512466000},"page":"408-413","source":"Crossref","is-referenced-by-count":3,"title":["Genetic detection of the silent allele (*Q0) in hereditary deficiencies of the human complement C6, C7, and C9 components"],"prefix":"10.1002","volume":"55","author":[{"given":"Victoria","family":"Alvarez","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eliecer","family":"Coto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fernando","family":"Seti\u00e9n","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter J.","family":"Spath","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlos","family":"L\u00f3pez\u2010Larrea","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,5,16]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(89)90286-3"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197408082910606"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00193207"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01719238"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/18.7.1929-a"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/18.18.5581"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.81.23.7298"},{"key":"e_1_2_1_9_1","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1016\/S0021-9258(19)57427-0","article-title":"The structure of human complement component C7 and the C5b\u20107 complex","volume":"263","author":"DiScipio RG","year":"1988","journal-title":"J Biol Chem"},{"key":"e_1_2_1_10_1","doi-asserted-by":"crossref","first-page":"16197","DOI":"10.1016\/S0021-9258(18)71607-4","article-title":"Molecular architecture of C6","volume":"264","author":"DiScipio RG","year":"1989","journal-title":"J Biol Chem"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/intimm\/1.1.85"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1159\/000463077"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02421333"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1744-313X.1978.tb00641.x"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/2.7.1035"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1990.tb00370.x"},{"key":"e_1_2_1_17_1","first-page":"193","article-title":"Combined deficiency of C6 and C7 in man","volume":"33","author":"Lachmann PJ","year":"1978","journal-title":"Clin Exp Immunol"},{"key":"e_1_2_1_18_1","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1159\/000463133","article-title":"Study of genetic polymorphism of seventh complement component in two families with hereditary deficit","volume":"7","author":"L\u00f3pez\u2010Larrea C","year":"1990","journal-title":"Complement Inflamm"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/0019-2791(65)90004-2"},{"key":"e_1_2_1_20_1","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1093\/nar\/16.3.1215","article-title":"A simple salting out procedure for extracting DNA from human nucleated cells","volume":"16","author":"Miller SA","year":"1988","journal-title":"Nucleic Acids Res"},{"key":"e_1_2_1_21_1","first-page":"1","volume-title":"Human Genetic Diseases. 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