Concepedia

Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship

Hans Kristian Ploos van Amstel, A. Bergman, Ellen A.C.M. van Beurden, Janine Roijers, Tamara Peelen, Inge E.T. van den Berg, Bwee Tien Poll‐The, E. A. Kvittingen, Ruud Berger

Human Genetics · 1996 · 60 citations · 22 references

DOI

Concepts

References

22

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

Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. 1985.

Randall K. Saiki, S. Scharf, Fred Faloona et al. · PubMed · 1992 · 745 citations

, , +15

The occurrence of hepatoma in the chronic form of hereditary tyrosinemia

Arthur G. Weinberg, Charles E. Mize, Howard G. Worthen · The Journal of Pediatrics · 1976 · 287 citations

, , +13

Self-induced correction of the genetic defect in tyrosinemia type I.

E. A. Kvittingen, Helge Rootwelt, Ruud Berger et al. · Journal of Clinical Investigation · 1994 · 169 citations · Full text

, , +17