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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
4
|
pubmed:dateCreated |
1988-2-4
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pubmed:abstractText |
Two single-copy DNA sequences, pG24E6.8 (D13S21) detecting a low-frequency MspI RFLP and pG14E1.9 (D13S22) detecting a high-frequency Dra I RFLP, have been isolated and cloned from a human chromosome 13-specific phage library and localized at 13q14. Their subband localization was described using a panel of cell lines from patients with different chromosome 13 deletions. A quantitative analysis of hybridization signals was carried out, taking for reference a single-copy DNA sequence from another chromosome. D13S21 and D13S22 were both assigned to q14.1-14.2, which also harbors the genes responsible for retinoblastoma and Wilson disease. The Dra I polymorphism detected by pG14E1.9 is a very suitable one for linkage studies in families with either disease.
|
pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
|
pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Dec
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pubmed:issn |
0340-6717
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
77
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
|
pubmed:pagination |
335-7
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:2891602-Cell Line,
pubmed-meshheading:2891602-Chromosome Banding,
pubmed-meshheading:2891602-Chromosome Mapping,
pubmed-meshheading:2891602-Chromosomes, Human, Pair 13,
pubmed-meshheading:2891602-DNA,
pubmed-meshheading:2891602-Hepatolenticular Degeneration,
pubmed-meshheading:2891602-Humans,
pubmed-meshheading:2891602-Karyotyping,
pubmed-meshheading:2891602-Nucleic Acid Hybridization,
pubmed-meshheading:2891602-Polymorphism, Genetic,
pubmed-meshheading:2891602-Polymorphism, Restriction Fragment Length,
pubmed-meshheading:2891602-Retinoblastoma
|
pubmed:year |
1987
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pubmed:articleTitle |
Localization at a subband level of polymorphic 13q14 DNA probes for diagnosis of hereditary retinoblastoma and Wilson disease.
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pubmed:affiliation |
Department of Human Genetics, State University of Groningen, The Netherlands.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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