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1 Possible Causes for Allelic to Autosomal Recessive PXE

  • Pseudoxanthoma Elasticum

    autosomal recessive disease.[ncbi.nlm.nih.gov] The disease has an autosomal recessive inheritance, which means that both copies (alleles) of the gene must be altered in each cell to disease expression.[ivami.com] Over 300 distinct loss-of-function mutations representative of over 1000 mutant alleles in ABCC6 have been identified by streamlined mutation detection strategies in this[ncbi.nlm.nih.gov]

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