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B3GALT6 mutations causes a pleiotropic form of Ehlers-Danlos syndrome (EDS) due defects in glycosaminoglycan biosynthesis

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https://hal.univ-lorraine.fr/hal-01707183
Contributor : Sandrine Gulberti <>
Submitted on : Monday, February 12, 2018 - 3:49:53 PM
Last modification on : Tuesday, October 13, 2020 - 10:45:36 AM

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  • HAL Id : hal-01707183, version 1

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Xiaomeng Pang, Anne Robert, Isabelle Bertin-Jung, Tim Van damme, Fransiska Malfait, et al.. B3GALT6 mutations causes a pleiotropic form of Ehlers-Danlos syndrome (EDS) due defects in glycosaminoglycan biosynthesis. Journée scientifique de l'ITMO BMSV d'AVIESAN commémorant le 100ème anniversaire de la découverte de l'héparine, Oct 2016, Paris, France. ⟨hal-01707183⟩

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