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, 138 , 15690-15698, Ting, C

COL3A1 testing identified the Glu682Lys variant (identical pathogenic variant to family 1 and family 4), which was subsequently identified in the father (IV.1) and another daughter (V.3)

To elucidate the capability of GSH biosynthesis in these strains, resting cells were used for GSH synthesis

Murshed R, Lopez-Lauri F, Sallanon H (2008) Microplate quantification of enzymes of the plant ascorbateglutathione cycle

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