A B3GALT6 variant in patient originally described as Al-Gazali syndrome and implicating the endoplasmic reticulum quality control in the mechanism of some β3GalT6-pathy mutations

A. Ben-Mahmoud, S. Ben-Salem, M. Al-Sorkhy, A. John, B. R. Ali, L. Al-Gazali

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10 Citations (Scopus)

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Medicine and Dentistry

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Pharmacology, Toxicology and Pharmaceutical Science

Biochemistry, Genetics and Molecular Biology