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The wound creation protocol was adapted from Oryan et al

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Gustafson C, Koslosky M, Leslie J, Walczak C

participates in the mechanism responsible for bone calcification, is involved in the activities of phosphatases, pancreatic amylase and insulin synthesis

Heterologous expression of an engineered bifunctional bacterial GSH biosynthetic enzyme (GshF) in mitochondria enables mitochondrial GSH production and ameliorates the metabolic and proliferative defects caused by its depletion

Methods: Direct whole-exome sequencing (WES) was performed in all the five available individuals from the family, including the affected individual (III-7) using standard procedures