title: Genetic analysis of a novel splice-site mutation in TMC8 reveals the in vivo importance of the transmembrane channel-like domain of TMC8.
authors.affiliation: Department of Dermatology, Hokkaido University Graduate School of Medicine, North 15 West 7, Kita-ku, Sapporo, 060-8638, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Miyauchi
authors.affiliation: Department of Dermatology, Hokkaido University Graduate School of Medicine, North 15 West 7, Kita-ku, Sapporo, 060-8638, Japan. nomura@huhp.hokudai.ac.jp.
authors.forename: T
authors.initials: T
authors.lastname: Nomura
authors.affiliation: Department of Dermatology, Hokkaido University Graduate School of Medicine, North 15 West 7, Kita-ku, Sapporo, 060-8638, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Suzuki
authors.affiliation: Department of Dermatology, Hokkaido University Graduate School of Medicine, North 15 West 7, Kita-ku, Sapporo, 060-8638, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Takeda
authors.affiliation: Department of Dermatology, Hokkaido University Graduate School of Medicine, North 15 West 7, Kita-ku, Sapporo, 060-8638, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Shinkuma
authors.affiliation: Department of Dermatology, Hokkaido University Graduate School of Medicine, North 15 West 7, Kita-ku, Sapporo, 060-8638, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Arita
authors.affiliation: Department of Dermatology, Hokkaido University Graduate School of Medicine, North 15 West 7, Kita-ku, Sapporo, 060-8638, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Fujita
authors.affiliation: Department of Dermatology, Hokkaido University Graduate School of Medicine, North 15 West 7, Kita-ku, Sapporo, 060-8638, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Shimizu
mesh_terms: D003241:Consanguinity; D004819:Epidermodysplasia Verruciformis / Q000235:genetics* / Q000473:pathology; D005148:Facial Dermatoses / Q000235:genetics* / Q000473:pathology; D006229:Hand Dermatoses / Q000235:genetics* / Q000473:pathology; D006720:Homozygote; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D022821:RNA Splice Sites / Q000235:genetics*
chemical_list: D008565:Membrane Proteins; D022821:RNA Splice Sites; C470314:TMC6 protein, human; C470315:TMC8 protein, human