Linked Life Data

3482910

Source:http://linkedlifedata.com/resource/pubmed/id/3482910

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
820
pubmed:dateCreated
1988-7-20
pubmed:abstractText
We report a family with the X-linked eye disorder Norrie's disease, in which DNA analysis enabled the distinction to be made between female carriers and non carriers. There was perfect cosegregation of the disease gene and the restriction fragment length polymorphism DXS7 which is recognised by the probe L1.28. Adding our data to those already on record, the lod score for linkage between DXS7 and Norrie's disease reaches 5.6, for a recombination fraction of 0.0. We anticipate that DNA testing will become a major investigative tool in genetic counselling.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
0028-8446
pubmed:author
pubmed:issnType
Print
pubmed:day
25
pubmed:volume
100
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
166-8
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed:year
1987
pubmed:articleTitle
The use of a DNA marker for carrier diagnosis in an X-linked disorder: Norrie's disease.
pubmed:affiliation
Department of Biochemistry, University of Otago, Dunedin.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't