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- W4386784504 abstract "This chapter shows how we can connect mutant phenotypes to the corresponding DNA sequence after the mutations had been identified and classified. The process is colloquially known as cloning the gene. The chapter looks at complementation tests and sequence analysis which are often conducted to confirm the causative gene of the phenotype. The chapter presents the processes that have helped identify the causative genes for some rare genetic human conditions. The chapter also looks at the process of a typical gene-cloning strategy which includes mapping a mutant phenotype or looking at genes transcribed in a pattern. It explains how the DNA sequence corresponding to a mutant or variant phenotype can now be identified directly, by sequencing the genomes or the exons of affected individuals." @default.
- W4386784504 created "2023-09-16" @default.
- W4386784504 creator A5017350430 @default.
- W4386784504 date "2020-04-23" @default.
- W4386784504 modified "2023-09-27" @default.
- W4386784504 title "Connecting phenotypes with DNA sequences" @default.
- W4386784504 doi "https://doi.org/10.1093/hesc/9780198809906.003.0007" @default.
- W4386784504 hasPublicationYear "2020" @default.
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