Concepedia

Evidence Against Keratin Gene Mutations in a Family with Ichthyosis Hystrix Curth-Macklin

Jeannette M. Bonifas, John W. Bare, Marisa A Chen, Annamari Ranki, Kirsti-Maria Neimi, Ervin H. Epstein

Journal of Investigative Dermatology · 1993 · 25 citations · 25 references

DOI

Concepts

References

25

Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction.

J L Weber, Paula E. May · PubMed · 1989 · 3.4K citations

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A hypervariable microsatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle actin gene.

M. Litt, J.A. Luty · PubMed · 1989 · 2K citations

, , +7

Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: Genetic and functional analyses

Pierre A. Coulombe, M. Elizabeth Hutton, Anthony Letal et al. · Cell · 1991 · 656 citations

, , +10

Epidermolysis Bullosa Simplex: Evidence in Two Families for Keratin Gene Abnormalities

J. M. Bonifas, ALANA L. ROTHMAN, E Epstein · Science · 1991 · 428 citations

, , +14

Mutant keratin expression in transgenic mice causes marked abnormalities resembling a human genetic skin disease

Robert Vassar, Pierre A. Coulombe, Linda Degenstein et al. · Cell · 1991 · 415 citations

, , +9