{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,5,21]],"date-time":"2024-05-21T21:53:34Z","timestamp":1716328414898},"reference-count":27,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2008,6,28]],"date-time":"2008-06-28T00:00:00Z","timestamp":1214611200000},"content-version":"vor","delay-in-days":6722,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[1990,2]]},"abstract":"<jats:p>Pelizaeus\u2010Merzbacher disease (PMD) is a rare X\u2010linked recessive disorder with severe psycho\u2010motor retardation and neurological symptoms due to an inborn abnormality of proteolipid protein (PLP), the major protein component of myelin. A tight linkage between the gene of PLP and PMD locus has been suggested. We have carried out a series of RFLP studies using a cDNA probe for PLP and an anonymous DNA\u2010fragment DXYS12 in a large Finnish family with at least three affected individuals. DNA analysis on chorionic villus specimens allowed us to exclude the disease in a male fetus of a possible carrier mother and, likewise, to demonstrate carrier status in a female fetus in another at\u2010risk pregnancy.<\/jats:p>","DOI":"10.1111\/j.1399-0004.1990.tb03491.x","type":"journal-article","created":{"date-parts":[[2010,7,19]],"date-time":"2010-07-19T04:26:17Z","timestamp":1279513577000},"page":"141-146","source":"Crossref","is-referenced-by-count":13,"title":["Prenatal diagnosis in Pelizaeus\u2010Merzbacher disease using RFLP analysis"],"prefix":"10.1111","volume":"37","author":[{"given":"Johanna","family":"M\u00e4enp\u00e4\u00e4","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elina","family":"Lindahl","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pertti","family":"Aula","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marja\u2010Liisa","family":"Savontaus","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,6,28]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00687799"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0887-8994(87)90072-5"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00284707"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/321867a0"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.83.24.9807"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/jnr.490160125"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-2836(88)90303-8"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1159\/000132030"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00348925"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410210208"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(88)90135-9"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00290964"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02893591"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.84.16.5665"},{"key":"e_1_2_1_16_1","first-page":"74","volume-title":"Methods in Hematology","author":"Old J. 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E.Hodes(1989).Pelizaeus\u2010Merzbacher disease shows perfect linkage to sequence variant in second exon of proteolipid protein gene.HGM10 Conference book: Abstracts A2040."},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-196904000-00005"},{"key":"e_1_2_1_25_1","first-page":"716","article-title":"Regional assignment of the proteolipid protein (PLP) gene to Xq21.2\u2010q22 and gene analysis in X\u2010linked Pelizaeus\u2010Merzbacher disease","volume":"46","author":"Willard H. F.","year":"1987","journal-title":"Cytogenet. Cell. Genet."},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.3840606"},{"key":"e_1_2_1_27_1","first-page":"722","article-title":"Subregional localization of the gene for myelin proteolipid protein to Xq22.1\u2010q22 by deletion mapping","volume":"46","author":"Yang H. M.","year":"1987","journal-title":"Cytogenet. Cell. 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