Whole-Exome Sequencing Identifies Novel Variants that Co-segregates with Autosomal Recessive Retinal Degeneration in a Pakistani Pedigree. [electronic resource]
Producer: 20190506Description: 219-228 p. digitalISSN:- 0065-2598
- Animals
- Chromosomes, Human, Pair 11 -- genetics
- Consanguinity
- Conserved Sequence
- DNA Mutational Analysis
- DNA-Binding Proteins -- chemistry
- Genes, Recessive
- Genetic Linkage
- Humans
- INDEL Mutation
- Pakistan
- Pedigree
- Polymorphism, Single Nucleotide
- Retinal Degeneration -- genetics
- Sequence Alignment
- Sequence Homology, Amino Acid
- Species Specificity
- Transcription Factors -- chemistry
- Exome Sequencing
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Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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