Identification of a frameshift mutation responsible for the silent phenotype of human serum cholinesterase, Gly 117 (GGT----GGAG).

A frameshift mutation that causes a silent phenotype for human serum cholinesterase was identified in the DNA of seven individuals of two unrelated families. The mutation, identified using the polymerase chain reaction, causes a shift in the reading frame from Gly 117, where GGT (Gly)----GGAG (Gly+...

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Autores principales: Nogueira, C P, McGuire, M C, Graeser, C, Bartels, C F, Arpagaus, M, Van der Spek, A F, Lightstone, H, Lockridge, O, La Du, B N
Formato: Artigo
Lenguaje:Inglês
Publicado: 1990
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683584/
https://ncbi.nlm.nih.gov/pubmed/2339692
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