Switch to
| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
4
|
| pubmed:dateCreated |
1989-5-26
|
| pubmed:abstractText |
Molecular linkage analysis was undertaken on a large Mauritian kindred with X-linked mixed deafness, stapes fixation, and perilymphatic gusher (X-LDSF). DNA probe pDP34 (DXYS1) was tightly linked to the disorder, with a lod score of 6.32 at zero recombination. This observation indicates that the gene for this form of deafness maps to the Xq13-q21.1 region and has important implications for carrier screening and antenatal diagnosis.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:month |
Nov
|
| pubmed:issn |
0888-7543
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
3
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
299-301
|
| pubmed:dateRevised |
2010-11-18
|
| pubmed:meshHeading |
pubmed-meshheading:3243543-Chromosome Mapping,
pubmed-meshheading:3243543-Deafness,
pubmed-meshheading:3243543-Female,
pubmed-meshheading:3243543-Genetic Linkage,
pubmed-meshheading:3243543-Humans,
pubmed-meshheading:3243543-India,
pubmed-meshheading:3243543-Lod Score,
pubmed-meshheading:3243543-Male,
pubmed-meshheading:3243543-Mauritius,
pubmed-meshheading:3243543-Pedigree,
pubmed-meshheading:3243543-Polymorphism, Genetic,
pubmed-meshheading:3243543-Stapes Surgery,
pubmed-meshheading:3243543-X Chromosome
|
| pubmed:year |
1988
|
| pubmed:articleTitle |
X-linked mixed deafness with stapes fixation in a Mauritian kindred: linkage to Xq probe pDP34.
|
| pubmed:affiliation |
Department of Human Genetics, Medical School, University of Cape Town, South Africa.
|
| pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
|