Concepedia

At Least Six Different Mutations inHEXAGene Cause Tay-Sachs Disease among the Turkish Population

H. Asuman Özkara, Ruth Navon

Molecular Genetics and Metabolism · 1998 · 21 citations · 16 references

DOI

Concepts

References

16

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

Masato Orita, Youichi Suzuki, Takao Sekiya et al. · Genomics · 1989 · 3.5K citations

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Molecular basis of base substitution hotspots in Escherichia coli

Christine Coulondre, Jeffrey H Miller, Philip J. Farabaugh et al. · Nature · 1978 · 1.2K citations

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Evidence to implicate translation by ribosomes in the mechanism by which nonsense codons reduce the nuclear level of human triosephosphate isomerase mRNA.

Phillip Belgrader, Jiu Cheng, Lynne E. Maquat · Proceedings of the National Academy of Sciences · 1993 · 182 citations

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Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis.

Ada Hamosh, Bruce C. Trapnell, Pamela L. Zeitlin et al. · Journal of Clinical Investigation · 1991 · 137 citations · Full text

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Beta-globin nonsense mutation: deficient accumulation of mRNA occurs despite normal cytoplasmic stability.

Susan J. Baserga, EJ Jr Benz · Proceedings of the National Academy of Sciences · 1992 · 120 citations

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