A late onset variant of ataxia-telangiectasia with a compound heterozygous genotype, A8030G/7481insA.
Saviozzi
S
S
Saluto
A
A
Taylor
A M
AM
Last
J I
JI
Trebini
F
F
Paradiso
M C
MC
Grosso
E
E
Funaro
A
A
Ponzio
G
G
Migone
N
N
Brusco
A
A
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*
D006147:Guanine; D000225:Adenine