title: A late onset variant of ataxia-telangiectasia with a compound heterozygous genotype, A8030G/7481insA.
authors.forename: S
authors.initials: S
authors.lastname: Saviozzi
authors.forename: A
authors.initials: A
authors.lastname: Saluto
authors.forename: A M
authors.initials: AM
authors.lastname: Taylor
authors.forename: J I
authors.initials: JI
authors.lastname: Last
authors.forename: F
authors.initials: F
authors.lastname: Trebini
authors.forename: M C
authors.initials: MC
authors.lastname: Paradiso
authors.forename: E
authors.initials: E
authors.lastname: Grosso
authors.forename: A
authors.initials: A
authors.lastname: Funaro
authors.forename: G
authors.initials: G
authors.lastname: Ponzio
authors.forename: N
authors.initials: N
authors.lastname: Migone
authors.forename: A
authors.initials: A
authors.lastname: Brusco
mesh_terms: D000225:Adenine; D000328:Adult; D001260:Ataxia Telangiectasia / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D005838:Genotype; D006147:Guanine; D006801:Humans; D008297:Male; D008875:Middle Aged; D016254:Mutagenesis, Insertional / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*
chemical_list: D006147:Guanine; D000225:Adenine