Case report: a subject with a mutation in the ATG start codon of L-ferritin has no haematological or neurological symptoms.
Cremonesi
L
L
Genomics for the Diagnosis of Human Pathologies Unit, IRCCS H. San Raffaele, Via Olgettina 58, 20132 Milan, Italy.
Cozzi
A
A
Girelli
D
D
Ferrari
F
F
Fermo
I
I
Foglieni
B
B
Levi
S
S
Bozzini
C
C
Camparini
M
M
Ferrari
M
M
Arosio
P
P
D001052:Apoferritins; D001483:Base Sequence; D002386:Cataract / Q000097:blood / Q000235:genetics / Q000473:pathology; D002851:Chromatography, High Pressure Liquid / Q000379:methods; D018387:Codon, Initiator / Q000235:genetics*; D004252:DNA Mutational Analysis; D005293:Ferritins / Q000097:blood / Q000235:genetics*; D006402:Hematologic Diseases / Q000235:genetics / Q000473:pathology; D006801:Humans; D009422:Nervous System Diseases / Q000235:genetics / Q000473:pathology; D017354:Point Mutation
D018387:Codon, Initiator; D005293:Ferritins; D001052:Apoferritins