TY  - GEN
AU  - Benoit,S
AU  - Kraemer,D
AU  - Bröcker,E-B
AU  - Goebeler,M
TI  - [Dyskeratosis congenita in a 40-year-old patient]
SN  - 0017-8470
PY  - 2007///0612
KW  - Adult
KW  - Amino Acid Substitution
KW  - genetics
KW  - Cell Cycle Proteins
KW  - Chromosomes, Human, X
KW  - Diagnosis, Differential
KW  - Dyskeratosis Congenita
KW  - diagnosis
KW  - Exons
KW  - Genes, Recessive
KW  - Genetic Carrier Screening
KW  - Humans
KW  - Isoleucine
KW  - Male
KW  - Methionine
KW  - Mutation, Missense
KW  - Nuclear Proteins
KW  - Sex Chromosome Aberrations
KW  - Thrombocytopenia
KW  - etiology
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1007/s00105-005-0937-2
ER  -