Characterization of novel star (steroidogenic acute regulatory protein) mutations causing non-classic lipoid adrenal hyperplasia

HIGHLIGHTS

• who: Regulatory Protein) Mutations Causing et al. from the Pediatric Endocrinology and Diabetology, University Children's Hospital Bern, Bern, Switzerland, Department of Nephrology and Hypertension, Inselspital, University of have published the article: Characterization of Novel StAR (Steroidogenic Acute Regulatory Protein) Mutations Causing Non-Classic Lipoid Adrenal Hyperplasia, in the Journal: (JOURNAL) of May/27,/2011
• what: The authors report two novel StAR mutations found in compound heterozygote form in two related patients (sister and brother) presenting with isolated glucocorticoid deficiency.
• how: These previous models of StAR have also been based on MLN64 structure . . .
  

   

  

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