title: Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis.
authors.affiliation: St John's Institute of Dermatology, King's College London, London, UK; Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
authors.forename: Takuya
authors.initials: T
authors.lastname: Takeichi
authors.affiliation: Viapath, St Thomas' Hospital, London, UK.
authors.forename: Lu
authors.initials: L
authors.lastname: Liu
authors.affiliation: St John's Institute of Dermatology, King's College London, London, UK.
authors.forename: Alya
authors.initials: A
authors.lastname: Abdul-Wahab
authors.affiliation: Viapath, St Thomas' Hospital, London, UK.
authors.forename: James R
authors.initials: JR
authors.lastname: McMillan
authors.affiliation: Department of Medical and Molecular Genetics, King's College London, London, UK.
authors.forename: Kristina L
authors.initials: KL
authors.lastname: Stone
authors.affiliation: Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
authors.forename: Masashi
authors.initials: M
authors.lastname: Akiyama
authors.affiliation: Department of Medical and Molecular Genetics, King's College London, London, UK.
authors.forename: Michael A
authors.initials: MA
authors.lastname: Simpson
authors.affiliation: Randall Division of Cell and Molecular Biophysics, King's College London, London, UK.
authors.forename: Maddy
authors.initials: M
authors.lastname: Parsons
authors.affiliation: St John's Institute of Dermatology, King's College London, London, UK.
authors.forename: Jemima E
authors.initials: JE
authors.lastname: Mellerio
authors.affiliation: St John's Institute of Dermatology, King's College London, London, UK. Electronic address: john.mcgrath@kcl.ac.uk.
authors.forename: John A
authors.initials: JA
authors.lastname: McGrath
mesh_terms: D002648:Child; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007057:Ichthyosis / Q000235:genetics*; D053556:Keratin-1 / Q000235:genetics*; D008875:Middle Aged; D017384:Sequence Deletion
chemical_list: C491616:KRT1 protein, human; D053556:Keratin-1