title: Lack of mutations in the human telomerase RNA component (hTERC) gene in Fanconi's anemia.
abstract: As some patients with Fanconi s anemia (FA) present excessive telomere shortening correlating with poor outcome, we investigated whether human telomerase RNA component (hTERC) mutations also play a role in telomere shortening in 115 FA patients. Only one patient was heterozygous for the G58A polymorphism. No other mutation or deletion was found. We conclude that hTERC gene mutations do not contribute to telomere shortening in FA.
authors.forename: Rodrigo T
authors.initials: RT
authors.lastname: Calado
authors.forename: Maria-Carolina
authors.initials: MC
authors.lastname: Pintão
authors.forename: Vanderson
authors.initials: V
authors.lastname: Rocha
authors.forename: Roberto P
authors.initials: RP
authors.lastname: Falcão
authors.forename: Marco A
authors.initials: MA
authors.lastname: Bitencourt
authors.forename: Wilson A
authors.initials: WA
authors.lastname: Silva
authors.forename: Eliane
authors.initials: E
authors.lastname: Gluckman
authors.forename: Ricardo
authors.initials: R
authors.lastname: Pasquini
authors.forename: Marco A
authors.initials: MA
authors.lastname: Zago
mesh_terms: D001938:Brazil; D005006:Ethnicity; D005199:Fanconi Anemia / Q000097:blood / Q000235:genetics*; D005808:Genes, Recessive; D005816:Genetic Complementation Test; D006801:Humans; D019098:Telomerase / Q000235:genetics*; D044465:White People
chemical_list: D019098:Telomerase