Elastin: Genomic Structure and Point Mutations in Patients with Supravalvular Aortic Stenosis

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Oxford University Press

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Point mutations in the melanocortin-4 receptor cause variable obesity in mice

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Springer Publishing Company

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Point Mutations in Human GLI3 Cause Greig Syndrome

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Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome

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Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis

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