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Publications by Emma Colao

A Novel ABCC6 Variant Causative of Pseudoxanthoma Elasticum

Human Genome Variation

Molecular Biology

English

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Pseudoxanthoma Elasticum: A Clinical, Pathophysiological and Genetic Update Including 11 Novel ABCC6 Mutations

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Novel Mutation in ABCC6 Gene in a Japanese Pedigree With Pseudoxanthoma Elasticum and Retinitis Pigmentosa

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405 Adenovirus-Mediated ABCC6 Gene Therapy Prevents Ectopic Mineralization in an Abcc6 Mouse Model of Pseudoxanthoma Elasticum

Journal of Investigative Dermatology

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Elevated Dietary Magnesium Prevents Connective Tissue Mineralization in a Mouse Model of Pseudoxanthoma Elasticum (Abcc6−/−)

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Genetic Heterogeneity of Pseudoxanthoma Elasticum: The Chinese Signature Profile of ABCC6 and ENPP1 Mutations

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ABCC6 Prevents Ectopic Mineralization Seen in Pseudoxanthoma Elasticum by Inducing Cellular Nucleotide Release

Proceedings of the National Academy of Sciences of the United States of America

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Pseudoxanthoma Elasticum

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Pseudoxanthoma Elasticum and Statin Prophylaxis

Journal of Molecular Medicine

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Subarachnoid Haemorrhage in Pseudoxanthoma Elasticum

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