Estimation of carrier frequencies of six autosomal-recessive Mendelian disorders in the Korean population
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/jhg2011144.pdf
Reference35 articles.
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3. Zlotogora, J. Population programs for the detection of couples at risk for severe monogenic genetic diseases. Hum. Genet. 126, 247–253 (2009).
4. Fares, F., Badarneh, K., Abosaleh, M., Harari-Shaham, A., Diukman, R. & David, M. Carrier frequency of autosomal-recessive disorders in the Ashkenazi Jewish population: should the rationale for mutation choice for screening be reevaluated? Prenat. Diagn. 28, 236–241 (2008).
5. Leehey, M. A. Fragile X-associated tremor/ataxia syndrome: clinical phenotype, diagnosis, and treatment. J. Investig. Med. 57, 830–836 (2009).
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