Concepedia

Splicing Defects in the Ataxia-Telangiectasia Gene, ATM: Underlying Mutations and Consequences

Sharon N. Teraoka, Milhan Telatar, Sara Becker-Catania, Teresa Liang, Suna Önengüt, Luciana Chessa, Özden Sanal, Richard A. Gatti, Patrick Concannon

The American Journal of Human Genetics · 1999 · 316 citations · 35 references

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References

35

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

, , +16

A Single Ataxia Telangiectasia Gene with a Product Similar to PI-3 Kinase

Kinneret Savitsky, Anat Bar‐Shira, Shlomit Gilad et al. · Science · 1995 · 2.8K citations

, , +11

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

Marvin B. Shapiro, Periannan Senapathy · Nucleic Acids Research · 1987 · 2.3K citations · Full text

, , +16

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences

Michael Krawczak, Jochen Reiss, D.N. Cooper · Human Genetics · 1992 · 1.4K citations

, , +17

SPLICING OF MESSENGER RNA PRECURSORS

Richard A. Padgett, Paula J. Grabowski, Maria M. Konarska et al. · Annual Review of Biochemistry · 1986 · 1.2K citations

, , +15