Heterozygosity for a single mutation in the ABCC6 gene may closely mimic PXE: consequences of this phenotype overlap for the definition of PXE.

Martin L, Ma?tre F, Bonicel P, Daudon P, Verny C, Bonneau D, Le Saux O, Chassaing N. Heterozygosity for a single mutation in the ABCC6 gene may closely mimic PXE: consequences of this phenotype overlap for the definition of PXE. Arch Dermatol. 2008 Mar; 144(3):301-6.

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subject areas

Aged
Diagnosis, Differential
DNA
Female
France
Genetic Predisposition to Disease
Heterozygote
Humans
Male
Middle Aged
Multidrug Resistance-Associated Proteins
Mutation
Pedigree
Phenotype
Polymerase Chain Reaction
Prospective Studies
Pseudoxanthoma Elasticum

authors with profiles

Olivier Le Saux, PhD

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