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Sphingosine 1 phosphate lyase mutations cause primary adrenal insufficiency and steroid resistant nephrotic syndrome

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Figure

Figure 1. Pedigrees of kindreds 1 to 5 where all affected individuals manifested PAI, with or without SRNS, and were positive for mutations in SGPL1
Table 1. Clinical phenotype of the patients included in the study with associated mutations in SGPL1
Figure 2. p.R222Q and p.F545del mutations affect highly conserved areas in SGPL1 and are loss of function, resulting in proteins with reduced lyase activity
Table 2. Comparison of SGPL1-deficient mouse phenotype with clinical findings in the patients
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