Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
7
pubmed:dateCreated
1982-9-10
pubmed:abstractText
The aims of this study are: (1) to determine the frequencies of the various genetic forms of retinitis pigmentosa; and (2) to perform segregation analysis on autosomal dominant, autosomal recessive, and X-linked families. The families studied consisted of 2 series of patients at Moorfields Eye Hospital: (1) 426 families seen in the Genetic Clinic; and (2) 289 families seen in the Electrodiagnostic Department. Comparison between the 2 series identified biases of ascertainment, and it was estimated that the combined series included 53% of simplex cases and a minimum of 15% of X-linked families. Segregation analysis of the Genetic Clinic series showed good agreement with expectation in autosomal dominant and X-linked families, but indicated that no more than 70% of all simplex cases were autosomal recessive. The rest of the simplex cases were mildly affected and may represent fresh autosomal dominant mutations, autosomal dominant transmission with reduced penetrance, the heterozygous state of X-linked disease in some of the females, and phenocopies.
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/7093178-1083673, http://linkedlifedata.com/resource/pubmed/commentcorrection/7093178-1138842, http://linkedlifedata.com/resource/pubmed/commentcorrection/7093178-13626932, http://linkedlifedata.com/resource/pubmed/commentcorrection/7093178-13860992, http://linkedlifedata.com/resource/pubmed/commentcorrection/7093178-13894569, http://linkedlifedata.com/resource/pubmed/commentcorrection/7093178-13963102, http://linkedlifedata.com/resource/pubmed/commentcorrection/7093178-13963104, http://linkedlifedata.com/resource/pubmed/commentcorrection/7093178-14174231, http://linkedlifedata.com/resource/pubmed/commentcorrection/7093178-14424475, http://linkedlifedata.com/resource/pubmed/commentcorrection/7093178-14903771, http://linkedlifedata.com/resource/pubmed/commentcorrection/7093178-4213352, http://linkedlifedata.com/resource/pubmed/commentcorrection/7093178-4515510, http://linkedlifedata.com/resource/pubmed/commentcorrection/7093178-5065755, http://linkedlifedata.com/resource/pubmed/commentcorrection/7093178-5592424, http://linkedlifedata.com/resource/pubmed/commentcorrection/7093178-5771465, http://linkedlifedata.com/resource/pubmed/commentcorrection/7093178-5832305, http://linkedlifedata.com/resource/pubmed/commentcorrection/7093178-5865628, http://linkedlifedata.com/resource/pubmed/commentcorrection/7093178-5878602, http://linkedlifedata.com/resource/pubmed/commentcorrection/7093178-655919, http://linkedlifedata.com/resource/pubmed/commentcorrection/7093178-817406
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
0007-1161
pubmed:author
pubmed:issnType
Print
pubmed:volume
66
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
405-16
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed:year
1982
pubmed:articleTitle
On the heredity of retinitis pigmentosa.
pubmed:publicationType
Journal Article, Comparative Study, Research Support, Non-U.S. Gov't