Molecular diagnosis for heterogeneous genetic diseases with targeted high-throughput DNA sequencing applied to retinitis pigmentosa. [electronic resource]
Producer: 20110526Description: 145-51 p. digitalISSN:- 1468-6244
- Amino Acid Sequence
- Base Sequence
- Cyclic Nucleotide Phosphodiesterases, Type 6 -- genetics
- Female
- Genetic Diseases, Inborn -- diagnosis
- Genetic Testing
- Heterozygote
- High-Throughput Nucleotide Sequencing -- methods
- Humans
- Male
- Molecular Sequence Data
- Mutation, Missense
- Pedigree
- Retinitis Pigmentosa -- diagnosis
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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