Compound heterozygosity for two new TERT mutations in a patient with aplastic anemia

Pediatric Blood and Cancer

Volumn 55, Issue 3, 2010, Pages 550-553

  Aspesi, Anna ^a   Vallero, Stefano ^b   Rocci, Alberto ^b   Pavesi, Elisa ^a   Lanciotti, Marina ^c   Ramenghi, Ugo ^b   Dianzani, Irma ^a  

^a UNIVERSITY OF EASTERN PIEDMONT   (Italy)

^b UNIVERSITY OF TURIN   (Italy)

^c G GASLINI INSTITUTE   (Italy)

Author keywords

Aplastic anemia; Dyskeratosis congenita; Telomere; TERT

Indexed keywords

CYCLOSPORIN; HUMAN IMMUNOGLOBULIN; LYMPHOCYTE ANTIBODY; STEROID; TELOMERASE REVERSE TRANSCRIPTASE; TELOMERASE; TERT PROTEIN, HUMAN;

APLASTIC ANEMIA; ARTICLE; BONE MARROW CANCER; BONE MARROW DEPRESSION; CASE REPORT; CHILD; CLINICAL ASSESSMENT; CLINICAL FEATURE; DISEASE PREDISPOSITION; DYSKERATOSIS CONGENITA; GENE MUTATION; HETEROZYGOSITY; HUMAN; LEUKOPLAKIA; LUNG FIBROSIS; MALE; MISSENSE MUTATION; NAIL DYSTROPHY; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; SKIN PIGMENTATION; TELOMERE; TREATMENT OUTCOME; TREATMENT RESPONSE; DNA SEQUENCE; GENETICS; HETEROZYGOTE; PATHOLOGY;

ANEMIA, APLASTIC; CHILD; DYSKERATOSIS CONGENITA; HETEROZYGOTE; HUMANS; MALE; MUTATION, MISSENSE; SEQUENCE ANALYSIS, DNA; TELOMERASE; TELOMERE;

EID: 77955505750     PISSN: 15455009     EISSN: 15455017     Source Type: Journal    
DOI: 10.1002/pbc.22589     Document Type: Article

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