title: Identification of a novel BLM missense mutation (2706T>C) in a Moroccan patient with Bloom's syndrome.
authors.affiliation: Institut Pasteur du Maroc, 1 place Abou Kacem Ez-Zahraoui, BP 120, Casablanca, Maroc.
authors.forename: A
authors.initials: A
authors.lastname: Barakat
authors.forename: M
authors.initials: M
authors.lastname: Ababou
authors.forename: R
authors.initials: R
authors.lastname: Onclercq
authors.forename: S
authors.initials: S
authors.lastname: Dutertre
authors.forename: E
authors.initials: E
authors.lastname: Chadli
authors.forename: N
authors.initials: N
authors.lastname: Hda
authors.forename: A
authors.initials: A
authors.lastname: Benslimane
authors.forename: M
authors.initials: M
authors.lastname: Amor-Guéret
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D001816:Bloom Syndrome / Q000235:genetics*; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D003545:Cysteine / Q000235:genetics; D004265:DNA Helicases / Q000235:genetics*; D006801:Humans; D009018:Morocco; D020125:Mutation, Missense / Q000235:genetics*; D053484:RecQ Helicases; D013912:Threonine / Q000235:genetics
chemical_list: D013912:Threonine; D000251:Adenosine Triphosphatases; C097151:Bloom syndrome protein; D004265:DNA Helicases; D053484:RecQ Helicases; D003545:Cysteine