Concepedia

Molecular characterization of two deletion events involving Alu-sequences, one novel base substitution and two tentative hotspot mutations in the hypoxanthine phosphoribosyltransferase (HPRT) gene in five patients with Lesch-Nyhan syndrome

Tatiana Tvrdik, Suzanne Marcus, Sai‐Mei Hou, Susann Fält, Peri Noori, Natalia Podlutskaja, F. Hanefeld, Petter Strømme, Bo Lambert

Human Genetics · 1998 · 30 citations · 56 references

DOI

Concepts

References

56

Chelex 100 as a Medium for Simple Extraction of DNA for PCR-Based Typing from Forensic Material

P. Sean Walsh, David A. Metzger, Russell Higuchi · BioTechniques · 2013 · 5.9K citations · Full text

, , +14

Simplified mammalian DNA isolation procedure

Peter W. Laird, Alice Zijderveld, Koert Linders et al. · Nucleic Acids Research · 1991 · 1.5K citations · Full text

, , +8

A familial disorder of uric acid metabolism and central nervous system function

Michael Lesch, William L. Nyhan · The American Journal of Medicine · 1964 · 1.5K citations

, , +9

A specific enzyme defect in gout associated with overproduction of uric acid.

William N. Kelley, F M Rosenbloom, Jane Henderson et al. · Proceedings of the National Academy of Sciences · 1967 · 478 citations · Full text

, , +6

T-cell cloning to detect the mutant 6-thioguanine-resistant lymphocytes present in human peripheral blood.

Richard J. Albertini, K L Castle, Wayne Borcherding · Proceedings of the National Academy of Sciences · 1982 · 387 citations · Full text

, , +12