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Compound Heterozygosity for a Recurrent 16.5-kb Alu-Mediated Deletion Mutation and Single-Base-Pair Substitutions in the ABCC6 Gene Results in Pseudoxanthoma Elasticum
Franziska Ringpfeil, Aoi Nakano, Jouni Uitto, Leena PulkkinenVolume:
68
Year:
2001
Language:
english
DOI:
10.1086/318807
File:
PDF, 1.09 MB
english, 2001