TY  - GEN
AU  - Pagnamenta,Alistair T
AU  - Lise,Stefano
AU  - Harrison,Victoria
AU  - Stewart,Helen
AU  - Jayawant,Sandeep
AU  - Quaghebeur,Gerardine
AU  - Deng,Alexander T
AU  - Murphy,Valerie Elizabeth
AU  - Sadighi Akha,Elham
AU  - Rimmer,Andy
AU  - Mathieson,Iain
AU  - Knight,Samantha J L
AU  - Kini,Usha
AU  - Taylor,Jenny C
AU  - Keays,David A
TI  - Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies
SN  - 1435-232X
PY  - 2012///0517
KW  - 1-Alkyl-2-acetylglycerophosphocholine Esterase
KW  - chemistry
KW  - Amino Acid Sequence
KW  - Base Sequence
KW  - Child
KW  - Classical Lissencephalies and Subcortical Band Heterotopias
KW  - genetics
KW  - Exome
KW  - Female
KW  - Gene Frequency
KW  - Humans
KW  - Magnetic Resonance Imaging
KW  - Microtubule-Associated Proteins
KW  - Molecular Sequence Data
KW  - Mosaicism
KW  - Sequence Analysis, DNA
KW  - methods
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1038/jhg.2011.128
ER  -