Article
A novel insertional mutation in loricrin in Vohwinkel's Keratoderma.
The Journal of investigative dermatology - 1 Oct 1998
Armstrong D K, McKenna K E, Hughes A E
Abstract excerpt
A mutation in the gene encoding loricrin has recently been reported in a subset of patients with Vohwinkel's Keratoderma manifesting an associated ichthyosiform dermatosis. We have studied a further kindred with this clinical phenotype. Microsatellite marker analysis was consistent with linkage to chromosome 1q21 and direct sequencing of loricrin identified a heterozygous mutation with an insertion of a T residue...
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