|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
5
|
|
pubmed:dateCreated |
1992-6-12
|
|
pubmed:abstractText |
We investigated 111 members of a five generation family with X linked cone dystrophy. The patients showed the characteristic picture of cone dystrophy. Routine ophthalmological examination of the carrier women showed no abnormalities. However, with detailed colour vision testing we were able to detect 87% of all obligate carriers.
|
|
pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/1583654-14060101,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1583654-2043573,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1583654-2256842,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1583654-2554733,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1583654-2740082,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1583654-3234184,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1583654-3489456,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1583654-3684214,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1583654-4536857,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1583654-6601944,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1583654-6603708,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1583654-7314468
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
May
|
|
pubmed:issn |
0022-2593
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
29
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
291-4
|
|
pubmed:dateRevised |
2010-11-18
|
|
pubmed:meshHeading |
pubmed-meshheading:1583654-Adolescent,
pubmed-meshheading:1583654-Adult,
pubmed-meshheading:1583654-Child,
pubmed-meshheading:1583654-Color Perception Tests,
pubmed-meshheading:1583654-Densitometry,
pubmed-meshheading:1583654-Female,
pubmed-meshheading:1583654-Genetic Linkage,
pubmed-meshheading:1583654-Heterozygote Detection,
pubmed-meshheading:1583654-Humans,
pubmed-meshheading:1583654-Male,
pubmed-meshheading:1583654-Middle Aged,
pubmed-meshheading:1583654-Pedigree,
pubmed-meshheading:1583654-Retinitis Pigmentosa,
pubmed-meshheading:1583654-X Chromosome
|
|
pubmed:year |
1992
|
|
pubmed:articleTitle |
X linked progressive cone dystrophy with specific attention to carrier detection.
|
|
pubmed:affiliation |
Department of Ophthalmology, Faculty of Medicine, University of Leiden, The Netherlands.
|
|
pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|
