TY  - GEN
AU  - Simpson,David A
AU  - Clark,Graeme R
AU  - Alexander,Sharon
AU  - Silvestri,Giuliana
AU  - Willoughby,Colin E
TI  - Molecular diagnosis for heterogeneous genetic diseases with targeted high-throughput DNA sequencing applied to retinitis pigmentosa
SN  - 1468-6244
PY  - 2011///0526
KW  - Amino Acid Sequence
KW  - Base Sequence
KW  - Cyclic Nucleotide Phosphodiesterases, Type 6
KW  - genetics
KW  - Female
KW  - Genetic Diseases, Inborn
KW  - diagnosis
KW  - Genetic Testing
KW  - Heterozygote
KW  - High-Throughput Nucleotide Sequencing
KW  - methods
KW  - Humans
KW  - Male
KW  - Molecular Sequence Data
KW  - Mutation, Missense
KW  - Pedigree
KW  - Retinitis Pigmentosa
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1136/jmg.2010.083568
ER  -