Item Type: | Article |
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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 |
Volume: | 102 |
Page Range: | 314-318 |
Date: | 1 January 1998 |
PubMed: | View item in PubMed |
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