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Oxford University Press

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Mutations of the α2(V) chain of type V collagen impair matrix assembly and produce Ehlers–Danlos syndrome type I

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Congenital Adrenal Hyperplasia, Ovarian Failure and Ehlers-Danlos Syndrome due to a 6p Deletion

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Familial Ehlers‐Danlos syndrome with lethal arterial events caused by a mutation in COL5A1

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Defects in homologous recombination repair in mismatch-repair-deficient tumour cell lines

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