Concepedia

A G to A transition at the last nucleotide of exon 6 of the γc gene (868G→A) may result in either a splice or missense mutation in patients with X-linked severe combined immunodeficiency

Nobuko Kanai, Fumio Yanai, Shinichi Hirose, Keiko Nibu, Kenji Izuhara, Tokio Tani, Takeo Kubota, Akihisa Mitsudome

Human Genetics · 1999 · 19 citations · 43 references

DOI

Concepts

References

43

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

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Improved free-energy parameters for predictions of RNA duplex stability.

Susan M. Freier, Ryszard Kierzek, J. A. Jaeger et al. · Proceedings of the National Academy of Sciences · 1986 · 1.5K citations · Full text

, , +17

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

Interleukin-2 receptor γ chain mutation results in X-linked severe combined immunodeficiency in humans

Masayuki Noguchi · Cell · 1993 · 1.3K citations

, , +10

Interleukin-2 Receptor γ Chain: a Functional Component of the Interleukin-7 Receptor

Masayuki Noguchi, Yoshiaki Nakamura, Sarah M. Russell et al. · Science · 1993 · 1.1K citations · Full text

, , +17