Concepedia

Ichthyosis Bullosa of Siemens Is Caused by Mutations in the Keratin 2e Gene

Hannie Kremer, Patrick L.J.M. Zeeuwen, W.H. Irwin McLean, Edwin C.M. Mariman, E. Birgitte Lane, Peter C M van de Kerkhof, H.H. Ropers, Peter M. Steijlen

Journal of Investigative Dermatology · 1994 · 100 citations · 22 references

DOI

Concepts

References

22

A simple salting out procedure for extracting DNA from human nucleated cells

S.A. Miller, Dale D. Dykes, Herbert F. Polesky · Nucleic Acids Research · 1988 · 20.6K citations · Full text

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Easy calculations of lod scores and genetic risks on small computers.

G.M. Lathrop, J.-M. Lalouel · PubMed · 1984 · 1.5K citations

, , +13

The CpG dinucleotide and human genetic disease

D.N. Cooper, Hagop Youssoufian · Human Genetics · 1988 · 941 citations

, , +14

Mutations in the Rod Domains of Keratins 1 and 10 in Epidermolytic Hyperkeratosis

Joseph A. Rothnagel, Andrea Dominey, L. D. Dempsey et al. · Science · 1992 · 373 citations

, , +14

The genetic basis of epidermolytic hyperkeratosis: A disorder of differentiation-specific epidermal keratin genes

Jian Cheng, Andrew J. Syder, Qian-Chun Yu et al. · Cell · 1992 · 344 citations

, , +9