Concepedia

A novel splice site mutation (156 + 1G→A) in theTSC2 gene

Arun Kumar, R.S. Kandt, Chantelle M. Wolpert, AD Roses, MA Pericak-Vance, J.R. Gilbert

Human Mutation · 1997 · 10 citations · 4 references

DOI

Concepts

References

4

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

Identification and characterization of the tuberous sclerosis gene on chromosome 16

Cell · 1993 · 1.7K citations

, , +7

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

Tuberous sclerosis (2nd ed.)

Kimball S. Fuiks · Journal of Epilepsy · 1989 · 89 citations

, , +5