Concepedia

Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency

Robert J. Pomponio, Thomas Reynolds, Heath Cole, Gregory A. Buck, Barry Wolf

Nature Genetics · 1995 · 77 citations · 17 references

DOI

Concepts

References

17

Enzymatic Amplification of β-Globin Genomic Sequences and Restriction Site Analysis for Diagnosis of Sickle Cell Anemia

Randall K. Saiki, Stephen J. Scharf, Fred Faloona et al. · Science · 1985 · 9K citations

, , +17

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.

Masato Orita, Hiroyuki Iwahana, Hiroshi Kanazawa et al. · Proceedings of the National Academy of Sciences · 1989 · 3.6K citations · Full text

, , +14

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 routine method for the establishment of permanent growing lymphoblastoid cell lines

Heidemarie Neitzel · Human Genetics · 1986 · 647 citations

, , +13

Current protocols in human genetics

Gillian P. Bates · Trends in Genetics · 1995 · 484 citations

, , +6