TINF2 mutations in children with severe aplastic anemia

Pediatric Blood and Cancer

Volumn 52, Issue 5, 2009, Pages 687-

  Du, Hong Yan ^a   Mason, Philip J ^a   Bessler, Monica ^a   Wilson, David B ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN TINF2; TELOMERE BINDING PROTEIN; UNCLASSIFIED DRUG; TINF2 PROTEIN, HUMAN;

APLASTIC ANEMIA; DISEASE SEVERITY; DYSKERATOSIS CONGENITA; GENE MUTATION; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMAN; LETTER; MUTATIONAL ANALYSIS; MYELODYSPLASTIC SYNDROME; NONHUMAN; PRIORITY JOURNAL; CASE REPORT; CHILD; FEMALE; GENETICS; MALE; METABOLISM; MUTATION; NOTE; PATHOLOGY; PRESCHOOL CHILD;

ANEMIA, APLASTIC; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; MALE; MUTATION; TELOMERE-BINDING PROTEINS;

EID: 63649117819     PISSN: 15455009     EISSN: 15455017     Source Type: Journal    
DOI: 10.1002/pbc.21903     Document Type: Letter

References (4)

1. Savage SA, Giri N, Baerlocher GM, et al. TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. Am J Hum Genet 2008;82:501-509.
2. Walne AJ, Vulliamy TJ, Beswick R, et al. TINF2 mutations result in very short telomeres: Analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes. Blood 2008;112:3594-3600.
3. Pigullo S, Pavesi E, Dianzani I, et al. NOLA1 gene mutations in acquired aplastic anemia. Pediatr Blood Cancer 2008; (in press).
4. Field JJ, Mason PJ, An P, et al. Low frequency of telomerase RNA mutations among children with aplastic anemia or myelodysplastic syndrome. J Pediatr Hematol Oncol 2006;28:450-453.