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‘POP’! The mystery of a skeletal dysplasia vanishes thanks to exome sequencing

‘POP’! The mystery of a skeletal dysplasia vanishes thanks to exome sequencing Whole‐exome re‐sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia Glazov et al. (2011) PLoS Genetics 7(3):e1002027 http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Clinical Genetics Wiley

‘POP’! The mystery of a skeletal dysplasia vanishes thanks to exome sequencing

Clinical Genetics , Volume 80 (2) – Aug 1, 2011

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References (2)

Publisher
Wiley
Copyright
© 2011 John Wiley & Sons A/S
ISSN
0009-9163
eISSN
1399-0004
DOI
10.1111/j.1399-0004.2011.01692.x
pmid
21534943
Publisher site
See Article on Publisher Site

Abstract

Whole‐exome re‐sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia Glazov et al. (2011) PLoS Genetics 7(3):e1002027

Journal

Clinical GeneticsWiley

Published: Aug 1, 2011

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