Revisiting Mendelian disorders through exome sequencing
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s00439-011-0964-2.pdf
Reference104 articles.
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5. Anastasio N, Ben-Omran T, Teebi A, Ha KC, Lalonde E, Ali R, Almureikhi M, Der Kaloustian VM, Liu J, Rosenblatt DS, Majewski J, Jerome-Majewska LA (2010) Mutations in SCARF2 are responsible for Van Den Ende–Gupta syndrome. Am J Hum Genet 87:553–559
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