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Volumn 57, Issue 4, 2006, Pages 313-316
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Dyskeratosis congenita in a 40-year-old patient;Dyskeratosis congenita bei einem 40-jährigen patienten
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Author keywords
DKC1 gene; Dyskeratosis congenita; Dyskerin; Zinsser Cole Engman syndrome
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Indexed keywords
DYSKERIN;
ADULT;
APLASIA;
ARTICLE;
CASE REPORT;
DYSKERATOSIS CONGENITA;
EXON;
GENE SEQUENCE;
GENETIC LINKAGE;
HOSPITAL ADMISSION;
HUMAN;
HYPERPIGMENTATION;
HYPOPIGMENTATION;
LEUKOPLAKIA;
MALE;
MISSENSE MUTATION;
OROPHARYNX;
PATIENT;
PHYSICAL EXAMINATION;
THROMBOCYTOPENIA;
ADULT;
AMINO ACID SUBSTITUTION;
CELL CYCLE PROTEINS;
CHROMOSOMES, HUMAN, X;
DIAGNOSIS, DIFFERENTIAL;
DYSKERATOSIS CONGENITA;
EXONS;
GENES, RECESSIVE;
HETEROZYGOTE DETECTION;
HUMANS;
ISOLEUCINE;
MALE;
METHIONINE;
MUTATION, MISSENSE;
NUCLEAR PROTEINS;
SEX CHROMOSOME ABERRATIONS;
THROMBOCYTOPENIA;
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EID: 33645452711
PISSN: 00178470
EISSN: None
Source Type: Journal
DOI: 10.1007/s00105-005-0937-2 Document Type: Article |
Times cited : (3)
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References (8)
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