Exome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome

Title
Exome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome
Authors
Keywords
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Journal
Journal of Pediatric Urology
Volume 7, Issue 5, Pages 569-573
Publisher
Elsevier BV
Online
2011-03-30
DOI
10.1016/j.jpurol.2011.02.034

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