One novel and two recurrent missense DKC1 mutations in patients with dyskeratosis congenita (DKC)

Genetic Counseling

Volumn 12, Issue 2, 2001, Pages 129-136

  Heiss, N S ^a   Megarbane A ^a   Klauck, S M ^a   Kreuz, F R ^a   Makhoul, E ^a   Majewski, F ^a   Poustka, A ^a  

^a GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

Author keywords

DKC1 gene; Dyskeratosis congenita; Missense mutations; Novel; Recurrent; Xq28

Indexed keywords

ADOLESCENT; ARTICLE; BONE MARROW DEPRESSION; CANCER RISK; CASE REPORT; CHROMOSOME XQ; DYSKERATOSIS CONGENITA; HUMAN; MALE; MISSENSE MUTATION; RECURRENT DISEASE;

ADOLESCENT; ADULT; CELL CYCLE PROTEINS; CHILD, PRESCHOOL; DNA; DYSKERATOSIS CONGENITA; FEMALE; HUMANS; MALE; MUTATION, MISSENSE; NUCLEAR PROTEINS; PEDIGREE; POLYMERASE CHAIN REACTION;

EID: 0034958530     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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