Linked Life Data

2903594

Source:http://linkedlifedata.com/resource/pubmed/id/2903594

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
16
pubmed:dateCreated
1988-12-16
pubmed:abstractText
In 7 families at risk for hemophilia A 42 individuals were evaluated by the Taq I polymorphism of the extragenic probe St 14.1 and the Bcl I as well the Hind III polymorphism of the intragenic probe F8e16-19. 15 out of 20 females of the core families were identified as carriers, under them all of the obligate heterozygotes. 5 individuals were excluded as carriers. The heterozygosity for each of the RFLPs was found to be between 30% and 79%. Combining the single data in 96% heterozygosity was found under the individuals tested. A linkage disequilibrium was found between the Bcl I and Hind III polymorphismus of the probe F8e16-19. A family at risk for hemophilia B including 5 individuals was studied using the Taq I and Xmn I polymorphisms of the probe P1. In one of two females the carrier state could be excluded in the other one confirmed.
pubmed:language
ger
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
0044-2542
pubmed:author
pubmed:issnType
Print
pubmed:day
15
pubmed:volume
43
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
441-4
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1988
pubmed:articleTitle
[Initial results of genetic carrier diagnosis in risk pedigrees with hemophilia A and B in East Germany].
pubmed:affiliation
Institut für Medizinische Genetik, Bereiches Medizin, Ernst-Moritz-Arndt-Universität Greifswald.
pubmed:publicationType
Journal Article, English Abstract