Compound heterozygosity for a novel and a recurrent ABCC6 gene mutation in an Italian family with Pseudoxanthoma elasticum.
Drera
Bruno
B
Brezzi
Andrea
A
Zoppi
Nicoletta
N
Venturini
Marina
M
Barlati
Sergio
S
Pinton
Pier Giacomo Calzavara
PG
Colombi
Marina
M
D000328:Adult; D000368:Aged; D000595:Amino Acid Sequence; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D027425:ATP-Binding Cassette, Sub-Family C Proteins / Q000737:chemistry / Q000235:genetics*; D009154:Mutation; D011561:Pseudoxanthoma Elasticum / Q000235:genetics*; D012008:Recurrence
D027425:ATP-Binding Cassette, Sub-Family C Proteins; C102029:ABCC6 protein, human