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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
1
|
| pubmed:dateCreated |
1991-1-23
|
| pubmed:abstractText |
In order to characterize a previously described submicroscopic deletion encompassing (part of) the choroideremia (tapetochoroidal dystrophy: TCD) gene, we have cloned a 10.5-kb EcoRI fragment from the patient's DNA; this fragment carries the junction between both deletion endpoints ("junction fragment"). The distal portion of this fragment defines a new marker within, or just distal to, the TCD gene. This marker has been employed to confirm the diagnosis in several affected family members, and to rule out carriership in a female at risk with conspicuous clinical signs.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Nov
|
| pubmed:issn |
0340-6717
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
86
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
61-4
|
| pubmed:dateRevised |
2006-11-15
|
| pubmed:meshHeading |
pubmed-meshheading:1979308-Blotting, Southern,
pubmed-meshheading:1979308-Choroideremia,
pubmed-meshheading:1979308-Chromosome Deletion,
pubmed-meshheading:1979308-Cloning, Molecular,
pubmed-meshheading:1979308-Deoxyribonuclease EcoRI,
pubmed-meshheading:1979308-Female,
pubmed-meshheading:1979308-Heterozygote Detection,
pubmed-meshheading:1979308-Humans,
pubmed-meshheading:1979308-Male,
pubmed-meshheading:1979308-Pedigree,
pubmed-meshheading:1979308-Polymorphism, Restriction Fragment Length,
pubmed-meshheading:1979308-Restriction Mapping
|
| pubmed:year |
1990
|
| pubmed:articleTitle |
Cloning of the breakpoints of a deletion associated with choroidermia.
|
| pubmed:affiliation |
Department of Human Genetics, University Hospital, University of Nijmegen, The Netherlands.
|
| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|