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Fig. 1 | BMC Pediatrics

Fig. 1

From: Stable clinical course in three siblings with late-onset isolated sulfite oxidase deficiency: a case series and literature review

Fig. 1

Genetic analysis of SUOX in our family. a, Family pedigree with mutations in SUOX gene. Filled: affected with ISOD (compound heterozygous mutation); not filled, mutation carrier (heterozygous mutation). b, Sequencing electropherograms of all three affected siblings showing c.1096C > T (mutation 1, maternal) and c.1376G > A (mutation 2, paternal) transition. c, Phylogenetic conservation of the R366 and R459 (highlighted in red). These residues were conserved between species during evolution

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BMC Pediatrics

ISSN: 1471-2431

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