Mutation analysis (ABCC6) in a family with pseudoxanthoma elasticum: presymptomatic testing with prognostic implications.
Li
Q
Q
Török
L
L
Kocsis
L
L
Uitto
J
J
D000483:Alleles; D004252:DNA Mutational Analysis; D005260:Female; D005838:Genotype; D006801:Humans; D027425:ATP-Binding Cassette, Sub-Family C Proteins / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D011561:Pseudoxanthoma Elasticum / Q000235:genetics* / Q000473:pathology; D055815:Young Adult
D027425:ATP-Binding Cassette, Sub-Family C Proteins; C102029:ABCC6 protein, human