Lamellar Ichthyosis Is Genetically Heterogeneous–Cases with Normal Keratinocyte Transglutaminase

Mutations of Keratinocyte Transglutaminase in Lamellar Ichthyosis

Marcel Huber, Irmingard Rettler, Katja Bernasconi et al. · Science · 1995 · 484 citations

Tgk Gene, Developmental Biology, Autoimmune Disease +11

Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis

Laura Russell, John J. DiGiovanna, Geraldine R. Rogers et al. · Nature Genetics · 1995 · 362 citations

Mendelian Disorder, Genetic Disorder, Genetics +8

The Small Proline-Rich Proteins Constitute a Multigene Family of Differentially Regulated Cornified Cell Envelope Precursor Proteins

Daniel Hohl, Pierre A. de Viragh, Françoise Arniguet-Barras et al. · Journal of Investigative Dermatology · 1995 · 163 citations · Full text

Protein Function, Signal Transduction, Protein Expression +5

Linkage of autosomal recessive lamellar ichthyosis to chromosome 14q.

Laura Russell, John J. DiGiovanna, Nemat Hashem et al. · PubMed · 1994 · 99 citations

Analysis of the Cornified Cell Envelope in Lamellar Ichthyosis

Daniel Hohl · Archives of Dermatology · 1993 · 71 citations