Late presentation of X-linked dyskeratosis congenita with a missense mutation in codon 350 of the dyskerin protein

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Bibliographic Details
Published in:EJD. European journal of dermatology 2015, Vol.25 (1), p.75-76
Main Authors: Mori, Naoya, Makino, Teruhiko, Mizawa, Megumi, Kagoyama, Ko, Kanegane, Hirokazu, Sakaguchi, Hirotoshi, Miyazono, Takayoshi, Kojima, Seiji, Shimizu, Tadamichi
Format: Article
Language:English
Subjects:
Adult
Cell Cycle Proteins - genetics
Cell Cycle Proteins - metabolism
Correspondence
Dermatology
DNA - genetics
DNA Mutational Analysis
Dyskeratosis Congenita - genetics
Dyskeratosis Congenita - metabolism
Humans
Male
Medicine
Medicine & Public Health
Mutation, Missense
Nuclear Proteins - genetics
Nuclear Proteins - metabolism
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ISSN:1167-1122
1952-4013
DOI:10.1684/ejd.2014.2454