{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,14]],"date-time":"2023-11-14T12:56:49Z","timestamp":1699966609355},"reference-count":10,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2005,12,14]],"date-time":"2005-12-14T00:00:00Z","timestamp":1134518400000},"content-version":"vor","delay-in-days":3819,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[1995,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>DNA\u2010based prenatal carrier detection of group A xeroderma pigmentosum (XP\u2010A) is reported. Chorionic villus sampling was done at the tenth gestational week in a pregnant woman whose first child suffers from XP\u2010A. Genomic DNAs from the villi, proband, and parents were PCR (polymerase chain reaction)\u2010amplified using three sets of primers, because the PCR and a subsequent enzyme digestion with <jats:italic>Hph<\/jats:italic>I, <jats:italic>Alw<\/jats:italic>NI, or <jats:italic>Mse<\/jats:italic>I may detect the three most frequent mutations of the XP\u2010A complementing gene (<jats:italic>XPAC<\/jats:italic>) in Japanese XP\u2010A patients. The results showed that the proband is a homozygote and that the parents and fetus are heterozygotes for a base substitution at the 3\u2032 acceptor site of intron 3 of <jats:italic>XPAC<\/jats:italic>, indicating that the fetus is a healthy carrier of XP\u2010A. This is the first case of prenatal carrier detection of the disorder.<\/jats:p>","DOI":"10.1002\/pd.1970150716","type":"journal-article","created":{"date-parts":[[2007,3,4]],"date-time":"2007-03-04T11:13:38Z","timestamp":1173006818000},"page":"675-677","source":"Crossref","is-referenced-by-count":5,"title":["DNA\u2010based prenatal carrier detection for group a xeroderma pigmentosum in a chorionic villus sample"],"prefix":"10.1002","volume":"15","author":[{"given":"Naomichi","family":"Matsumoto","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nakamichi","family":"Saito","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naoki","family":"Harada","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kiyoji","family":"Tanaka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Norio","family":"Niikawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,12,14]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970141005"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0027-5107(91)90137-D"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.128.7.971"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/1523-1747.ep12360046"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(74)90870-8"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.174.4005.147"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.87.24.9908"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/0921-8777(92)90080-M"},{"key":"e_1_2_1_10_1","first-page":"1135","article-title":"Genetics and skin cancer of xeroderma pigmentosum","volume":"78","author":"Takebe H.","year":"1987","journal-title":"Jpn. J. Cancer Res."},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/348073a0"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.1970150716","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.1970150716","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,27]],"date-time":"2023-10-27T01:01:55Z","timestamp":1698368515000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.1970150716"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,7]]},"references-count":10,"journal-issue":{"issue":"7","published-print":{"date-parts":[[1995,7]]}},"alternative-id":["10.1002\/pd.1970150716"],"URL":"https:\/\/doi.org\/10.1002\/pd.1970150716","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,7]]}}}