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Two commonly occurring mutations in the lysyl hydroxylase 1 gene decrease enzyme levels and are a primary cause of Ehlers-Danlos syndrome type VIA



Two commonly occurring mutations in the lysyl hydroxylase 1 gene decrease enzyme levels and are a primary cause of Ehlers-Danlos syndrome type VIA



Journal of Investigative Dermatology 117(2): 515




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In contrast to patients with the type VIA variant of Ehlers Danlos syndrome, a decrease in one of the isoforms of lysyl hydroxylase does not appear to be a common cause of the type VIB variant. Journal of Investigative Dermatology 117(2): 515, 2001