Author:
Peltonen Leena,Palotie Aarno,Lange Kenneth
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics,Molecular Biology
Reference90 articles.
1. Puffenberger, E. G. et al. Identity-by-descent and association mapping of a recessive gene for Hirschspring disease on human chromosome 13q22. Hum. Mol. Genet. 3, 1217–1225 ( 1994).
2. Puffenberger, E. G. et al. A missense mutation of the Endothelin-B receptor gene in multigenic Hirschsprung's disease. Cell 79, 1257– 1266 (1994).References 1 and 2 provide an early, beautiful example of how a complex disease can become a simple disease and how a population isolate can be used to dissect a phenotype.
3. Scott D. A. et al. Nonsyndromic autosomal recessive deafness is linked to the DFNBI locus in a large inbred Bedouin family from Israel. Am. J. Hum. Genet. 57, 965–968 (1995).
4. Bollobas, B. Littlewood's Miscellany (Cambridge Univ. Press, Cambridge, 1988).
5. Cavalli-Sforza, L. The DNA revolution in population genetics. Trends Genet. 14, 60–65 (1998).
Cited by
328 articles.
订阅此论文施引文献
订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献