Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK)

Molecular cloning: A laboratory manual

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Molecular Biotechnology, Natural Sciences, Genetics +8

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

Sensitive Detection, Polymerase Chain Reaction, Genetic Analysis +12

The CpG dinucleotide and human genetic disease

D.N. Cooper, Hagop Youssoufian · Human Genetics · 1988 · 940 citations

Genetic Diseases, Genetic Disorder, Genetics +5

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 · 653 citations

Point Mutations, Human Keratin 14, Cutaneous Biology +7

Mendelian inheritance in man

Jan Blancato · Reproductive Toxicology · 1993 · 455 citations

Gender Studies, Mendelian Randomization, Masculinity +4