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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
1992-6-29
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pubmed:abstractText |
In a large Dutch family with keratosis follicularis spinulosa decalvans (KFSD, MIM 308800), DNA linkage analysis was performed in order to locate the gene. Pedigree analysis and lod score calculation confirmed X-linked inheritance and revealed significant linkage to DNA markers on Xp. A maximum lod score of 5.70 at theta = 0.0 was obtained with DXS41 (p99.6). The KFSD gene is tentatively located on Xp21.2-p22.2.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Mar
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pubmed:issn |
0167-6784
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
13
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
27-30
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:1350668-Chromosome Mapping,
pubmed-meshheading:1350668-DNA,
pubmed-meshheading:1350668-DNA Probes,
pubmed-meshheading:1350668-Darier Disease,
pubmed-meshheading:1350668-Female,
pubmed-meshheading:1350668-Genetic Linkage,
pubmed-meshheading:1350668-Heterozygote Detection,
pubmed-meshheading:1350668-Humans,
pubmed-meshheading:1350668-Lod Score,
pubmed-meshheading:1350668-Male,
pubmed-meshheading:1350668-Netherlands,
pubmed-meshheading:1350668-Pedigree,
pubmed-meshheading:1350668-Polymorphism, Restriction Fragment Length,
pubmed-meshheading:1350668-X Chromosome
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pubmed:year |
1992
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pubmed:articleTitle |
Confirmation of X-linked inheritance and provisional mapping of the keratosis follicularis spinulosa decalvans gene on Xp in a large Dutch family.
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pubmed:affiliation |
Clinical Genetics Center Utrecht, The Netherlands.
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pubmed:publicationType |
Journal Article
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