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Exome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome
Wisam Al Badr, Suha Al Bader, Edgar Otto, Friedhelm Hildebrandt, Todd Ackley, Weiping Peng, Jishu Xu, Jun Li, Kailey M. Owens, David Bloom, Jeffrey W. InnisVolume:
7
Year:
2011
Language:
english
DOI:
10.1016/j.jpurol.2011.02.034
File:
PDF, 545 KB
english, 2011