[Dyskeratosis congenita in a 40-year-old patient]. [electronic resource]
Producer: 20070612Description: 313-5 p. digitalISSN:- 0017-8470
- Adult
- Amino Acid Substitution -- genetics
- Cell Cycle Proteins -- genetics
- Chromosomes, Human, X
- Diagnosis, Differential
- Dyskeratosis Congenita -- diagnosis
- Exons
- Genes, Recessive
- Genetic Carrier Screening
- Humans
- Isoleucine -- genetics
- Male
- Methionine -- genetics
- Mutation, Missense
- Nuclear Proteins -- genetics
- Sex Chromosome Aberrations
- Thrombocytopenia -- etiology
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Publication Type: Case Reports; Journal Article
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