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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
2
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pubmed:dateCreated |
1996-1-11
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pubmed:abstractText |
Linkage analysis and homogeneity tests were carried out in 15 Dutch families segregating X-linked retinitis pigmentosa (X L R P). The study included segregation data for eight polymorphic DNA markers from the short arm of the human X chromosome. The results of both multipoint linkage analysis in individual families and heterogeneity analysis support the view that there are only two X L R P loci on the short arm of the human X chromosome, with one locus near the OTC gene and one in the vicinity of DXS255. Furthermore, our data confirm the hypothesis that a tapetal reflex in female carriers can be observed more frequently, if not exclusively, in X L R P families of the R P 3 type.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Jun
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pubmed:issn |
1381-6810
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
16
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
63-70
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:7493158-Adolescent,
pubmed-meshheading:7493158-Chromosome Mapping,
pubmed-meshheading:7493158-DNA,
pubmed-meshheading:7493158-DNA Probes,
pubmed-meshheading:7493158-Female,
pubmed-meshheading:7493158-Genetic Heterogeneity,
pubmed-meshheading:7493158-Genetic Linkage,
pubmed-meshheading:7493158-Genetic Markers,
pubmed-meshheading:7493158-Humans,
pubmed-meshheading:7493158-Male,
pubmed-meshheading:7493158-Netherlands,
pubmed-meshheading:7493158-Pedigree,
pubmed-meshheading:7493158-Polymerase Chain Reaction,
pubmed-meshheading:7493158-Retinitis Pigmentosa,
pubmed-meshheading:7493158-X Chromosome
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pubmed:year |
1995
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pubmed:articleTitle |
Multipoint linkage analysis and homogeneity tests in 15 Dutch X-linked retinitis pigmentosa families.
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pubmed:affiliation |
The Netherlands Ophthalmic Research Institute, Amsterdam.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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