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Academic Press

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A Patient with Ehlers-Danlos Syndrome Type VI Is Homozygous for a Premature Termination Codon in Exon 14 of the Lysyl Hydroxylase 1 Gene

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Approach to Gene Therapy of Glycogenosis Type II (Pompe Disease)

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High frequency of inherited variants in the MEFV gene in patients with hematologic neoplasms: a genetic susceptibility?

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Splicing Variants in Sheep CLN3, the Gene Underlying Juvenile Neuronal Ceroid Lipofuscinosis

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