Article
Molecular genetic analysis of recessive mutations at a heterozygous autosomal locus in human cells.
Mutation research - 1 Mar 1990
Yandell D W, Dryja T P, Little J B
Abstract excerpt
We have investigated the genotypic changes that lead to expression of a recessive allele at a heterozygous autosomal locus in a human cell line. Mutant clones lacking thymidine kinase activity were derived from a B-cell lymphoblastoid line initially heterozygous at the tk locus, and restriction mapping was performed to detect intragenic structural alterations in the tk gene. In addition, informative molecular...
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