CTC1 Mutations in a patient with dyskeratosis congenita

Pediatric Blood and Cancer

Volumn 59, Issue 2, 2012, Pages 311-314

  Keller, Rachel B ^a,b   Gagne, Katelyn E ^a,b   Usmani, G Naheed ^c   Asdourian, George K ^d   Williams, David A ^a,b   Hofmann, Inga ^a   Agarwal, Suneet ^a,b  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b HARVARD STEM CELL INSTITUTE   (United States)

^c UNIVERSITY OF MASSACHUSETTS MEDICAL SCHOOL   (United States)

^d UMASS MEMORIAL MEDICAL CENTER   (United States)

Author keywords

Aplastic anemia; Bone marrow failure; Molecular genetics; Non malignant hematology; Telomerase

Indexed keywords

CONSERVED TELOMERE MAINTENANCE COMPONENT 1; DNA BINDING PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; AGED; ARTICLE; CASE REPORT; COATS PLUS SYNDROME; DENTAL CARIES; DYSKERATOSIS CONGENITA; EXON; FATIGUE; FEMALE; FEMUR FRACTURE; GENE MUTATION; GENETIC DISORDER; HAIR DISCOLORATION; HUMAN; HUMAN CELL; HYPERPIGMENTATION; HYPOPIGMENTATION; LEUKOPLAKIA; PANCYTOPENIA; PRIORITY JOURNAL; SKIN PIGMENTATION; TELOMERE;

ADOLESCENT; DYSKERATOSIS CONGENITA; FEMALE; FLOW CYTOMETRY; HETEROZYGOTE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MUTATION; RETINAL TELANGIECTASIS; TELOMERE; TELOMERE-BINDING PROTEINS; TOMOGRAPHY, X-RAY COMPUTED;

EID: 84862266191     PISSN: 15455009     EISSN: 15455017     Source Type: Journal    
DOI: 10.1002/pbc.24193     Document Type: Article

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