Studying the genetics of Hirschsprung's disease: unraveling an oligogenic disorder
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2004.00319.x/fullpdf
Reference81 articles.
1. Mutation in the alpha-synuclein gene identified in families with Parkinson's disease;Polymeropoulos;Science,1997
2. Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism;Kitada;Nature,1998
3. Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism;Bonifati;Science,2003
4. Approaches to identify genes for complex human diseases: lessons from mendelian disorders;Dean;Hum Mutat,2003
5. Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease;Botstein;Nat Genet,2003
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