Book chapter
Genetic factors modifying clinical expression of autosomal dominant RP
Advances in experimental medicine and biology, pp.3-8
572, Springer
2006
DOI: 10.1007/0-387-32442-9_1
PMCID: PMC2581449
PMID: 17249547
Abstract
Factors modifying clinical expression of inherited diseases are likely to be complex, involving genetic factors, environmental factors and stochastic effects. One way to reduce the complexity is to focus on individuals who share a dominant mutation identical by descent, thus eliminating variability in the underlying mutation and variation in cis to the mutation. A further simplification is to limit analysis to a single, extended family, which may reduce, though not eliminate, environmental effects.
Details
- Title: Subtitle
- Genetic factors modifying clinical expression of autosomal dominant RP
- Creators
- Stephen P Daiger - Human Genetics Ctr and Dept. of Ophthalmology, Univ. of Texas, Houston, TX, USA. stephen.p.daiger@uth.tmc.eduSuma P ShankarAlice B SchindlerLori S SullivanSara J BowneTerri M King - The University of Texas Health Science Center at HoustonE Warick DawEdwin M StoneJohn R Heckenlively
- Resource Type
- Book chapter
- Publication Details
- Advances in experimental medicine and biology, pp.3-8
- Series
- 572
- DOI
- 10.1007/0-387-32442-9_1
- PMID
- 17249547
- PMCID
- PMC2581449
- NLM abbreviation
- Adv Exp Med Biol
- ISSN
- 0065-2598
- Publisher
- Springer; Boston, MA
- Grant note
- R01 EY007142-12A2 / NEI NIH HHS EY07142 / NEI NIH HHS R01 EY007142 / NEI NIH HHS R01 EY014170 / NEI NIH HHS EY14170 / NEI NIH HHS
- Language
- English
- Date published
- 2006
- Academic Unit
- Iowa Neuroscience Institute; Ophthalmology and Visual Sciences
- Record Identifier
- 9983979907902771
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