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Human Molecular Genetics, Vol. 5, Iss. 11, 1996-11 ,pp. : 1733-1736

Oxford University Press

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

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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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Human Molecular Genetics, Vol. 7, Iss. 2, 1998-02 ,pp. : 249-255

Oxford University Press

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Familial Tetralogy of Fallot caused by mutation in the jagged1 gene

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Changes in heparan sulfate are associated with delayed wound repair, altered cell migration, adhesion and contractility in the galactosyltransferase I (4GalT-7) deficient form of EhlersDanlos syndrome

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