title: Late presentation of X-linked dyskeratosis congenita with a missense mutation in codon 350 of the dyskerin protein.
authors.affiliation: Department of Dermatology.
authors.forename: Naoya
authors.initials: N
authors.lastname: Mori
authors.affiliation: Department of Dermatology.
authors.forename: Teruhiko
authors.initials: T
authors.lastname: Makino
authors.affiliation: Department of Dermatology.
authors.forename: Megumi
authors.initials: M
authors.lastname: Mizawa
authors.affiliation: Department of Dermatology.
authors.forename: Ko
authors.initials: K
authors.lastname: Kagoyama
authors.affiliation: Department of Pediatrics.
authors.forename: Hirokazu
authors.initials: H
authors.lastname: Kanegane
authors.affiliation: Department of Hematology and Oncology, Children's Medical Center, Japanese Red Cross Nagoya First Hospital.
authors.forename: Hirotoshi
authors.initials: H
authors.lastname: Sakaguchi
authors.affiliation: Department of Internal Medicine, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, 2630 Sugitani, Toyama 930-0194, Japan.
authors.forename: Takayoshi
authors.initials: T
authors.lastname: Miyazono
authors.affiliation: Department of Pediatrics, Nagoya University Graduate School of Medicine.
authors.forename: Seiji
authors.initials: S
authors.lastname: Kojima
authors.affiliation: Department of Dermatology.
authors.forename: Tadamichi
authors.initials: T
authors.lastname: Shimizu
mesh_terms: D000328:Adult; D018797:Cell Cycle Proteins / Q000235:genetics* / Q000378:metabolism; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D019871:Dyskeratosis Congenita / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D009687:Nuclear Proteins / Q000235:genetics* / Q000378:metabolism
chemical_list: D018797:Cell Cycle Proteins; C112148:DKC1 protein, human; D009687:Nuclear Proteins; D004247:DNA