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Genetic and immunohistochemical detection of mutations inactivating the keratinocyte transglutaminase in patients with lamellar ichthyosis

Item Type:Article
Title:Genetic and immunohistochemical detection of mutations inactivating the keratinocyte transglutaminase in patients with lamellar ichthyosis
Creators Name:Hennies, H.C. and Raghunath, M. and Wiebe, V. and Vogel, M. and Velten, F. and Traupe, H. and Reis, A.
Keywords:Consanguinity, DNA Mutational Analysis, Heterozygote, Keratinocytes, Lamellar Ichthyosis, Point Mutation, Secondary Protein Structure, Single-Stranded Conformational Polymorphism, Skin, Transglutaminases
Source:Human Genetics
ISSN:0340-6717
Publisher:Springer (Germany)
Volume:102
Page Range:314-318
Date:1 January 1998
PubMed:View item in PubMed

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