pubmed-article:2077907 | rdf:type | pubmed:Citation | lld:pubmed |
pubmed-article:2077907 | lifeskim:mentions | umls-concept:C0019069 | lld:lifeskim |
pubmed-article:2077907 | lifeskim:mentions | umls-concept:C0013264 | lld:lifeskim |
pubmed-article:2077907 | lifeskim:mentions | umls-concept:C0033053 | lld:lifeskim |
pubmed-article:2077907 | lifeskim:mentions | umls-concept:C1521991 | lld:lifeskim |
pubmed-article:2077907 | lifeskim:mentions | umls-concept:C0314603 | lld:lifeskim |
pubmed-article:2077907 | lifeskim:mentions | umls-concept:C1708528 | lld:lifeskim |
pubmed-article:2077907 | lifeskim:mentions | umls-concept:C1524063 | lld:lifeskim |
pubmed-article:2077907 | lifeskim:mentions | umls-concept:C1292724 | lld:lifeskim |
pubmed-article:2077907 | pubmed:issue | 11 | lld:pubmed |
pubmed-article:2077907 | pubmed:dateCreated | 1991-4-25 | lld:pubmed |
pubmed-article:2077907 | pubmed:abstractText | Allele polymorphism has been evaluated using blot hybridization and a polymerase cascade of DNA synthesis in 40 families at high risk of hemophilia A (a total of 147 subjects) and in 15 families with Duchenne's myodystrophy, Heterozygous carriage of hemophilia A was identified or confirmed in 18 and ruled out in 4 close female relatives of probands. Prenatal tests for fetal hemophilia A were performed in 5 women from families with hemophilia A (in the 1st trimester in 2 and in the 2nd trimester in 3). Four diagnoses of hemophilia A were confirmed and 1 was ruled out. The DNA methods proved revealing in 34 of 40 families with hemophilia A and in 11 of 15 families with Duchenne's myodystrophy. Three of 9 probands were found to have a deletion of the proximal gene for Duchenne's myodystrophy in the DNA probe area of XY 1.1. Prospects of screening for heterozygous carriage and prenatal identification of hemophilia A and Duchenne's myodystrophy are discussed. | lld:pubmed |
pubmed-article:2077907 | pubmed:language | rus | lld:pubmed |
pubmed-article:2077907 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:2077907 | pubmed:citationSubset | IM | lld:pubmed |
pubmed-article:2077907 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:2077907 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:2077907 | pubmed:status | MEDLINE | lld:pubmed |
pubmed-article:2077907 | pubmed:month | Nov | lld:pubmed |
pubmed-article:2077907 | pubmed:issn | 0002-3906 | lld:pubmed |
pubmed-article:2077907 | pubmed:author | pubmed-author:BaranovV SVS | lld:pubmed |
pubmed-article:2077907 | pubmed:author | pubmed-author:Mikha?lovA... | lld:pubmed |
pubmed-article:2077907 | pubmed:author | pubmed-author:GorbunovaV... | lld:pubmed |
pubmed-article:2077907 | pubmed:author | pubmed-author:IvashchenkoT... | lld:pubmed |
pubmed-article:2077907 | pubmed:author | pubmed-author:SurinV LVL | lld:pubmed |
pubmed-article:2077907 | pubmed:author | pubmed-author:AseevM VMV | lld:pubmed |
pubmed-article:2077907 | pubmed:author | pubmed-author:GornostaevaN... | lld:pubmed |
pubmed-article:2077907 | pubmed:issnType | Print | lld:pubmed |
pubmed-article:2077907 | pubmed:owner | NLM | lld:pubmed |
pubmed-article:2077907 | pubmed:authorsComplete | Y | lld:pubmed |
pubmed-article:2077907 | pubmed:pagination | 26-8 | lld:pubmed |
pubmed-article:2077907 | pubmed:dateRevised | 2006-11-15 | lld:pubmed |
pubmed-article:2077907 | pubmed:meshHeading | pubmed-meshheading:2077907-... | lld:pubmed |
pubmed-article:2077907 | pubmed:meshHeading | pubmed-meshheading:2077907-... | lld:pubmed |
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pubmed-article:2077907 | pubmed:meshHeading | pubmed-meshheading:2077907-... | lld:pubmed |
pubmed-article:2077907 | pubmed:meshHeading | pubmed-meshheading:2077907-... | lld:pubmed |
pubmed-article:2077907 | pubmed:meshHeading | pubmed-meshheading:2077907-... | lld:pubmed |
pubmed-article:2077907 | pubmed:meshHeading | pubmed-meshheading:2077907-... | lld:pubmed |
pubmed-article:2077907 | pubmed:year | 1990 | lld:pubmed |
pubmed-article:2077907 | pubmed:articleTitle | [Use of molecular and genetic approaches in prenatal diagnosis and prevention of hemophilia A and Duchenne muscular dystrophy]. | lld:pubmed |
pubmed-article:2077907 | pubmed:publicationType | Journal Article | lld:pubmed |
pubmed-article:2077907 | pubmed:publicationType | English Abstract | lld:pubmed |