title: A novel TERC CR4/CR5 domain mutation causes telomere disease via decreased TERT binding.
authors: Division of Hematology/Oncology and Stem Cell Program, Boston Children's Hospital, Boston, MA.|Pediatric Oncology, Dana-Farber Cancer Institute, Boston, MA.|Harvard Stem Cell Institute, Boston, MA.|Department of Pediatrics, Harvard Medical School, Boston, MA.|Department of Basic Oncology, Hacettepe University Cancer Institute, Ankara, Turkey.
authors: Baris
authors: B
authors: Boyraz
authors: New York Oncology Hematology, Albany Medical Center, Albany, NY.
authors: Courtney M
authors: CM
authors: Bellomo
authors: Department of Pathology, Boston Children's Hospital, Boston, MA; and.
authors: Mark D
authors: MD
authors: Fleming
authors: Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA.
authors: Corey S
authors: CS
authors: Cutler
authors: Division of Hematology/Oncology and Stem Cell Program, Boston Children's Hospital, Boston, MA.|Pediatric Oncology, Dana-Farber Cancer Institute, Boston, MA.|Harvard Stem Cell Institute, Boston, MA.|Department of Pediatrics, Harvard Medical School, Boston, MA.
authors: Suneet
authors: S
authors: Agarwal
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D009690:Nucleic Acid Conformation; D011485:Protein Binding; D012313:RNA / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D035781:Siblings; D019098:Telomerase / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism*; D016615:Telomere / Q000378:metabolism*; D013921:Thrombocytopenia / Q000235:genetics* / Q000378:metabolism
chemical_list: C422952:telomerase RNA; D012313:RNA; C509186:TERT protein, human; D019098:Telomerase