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Characterization of Novel StAR (Steroidogenic Acute Regulatory Protein) Mutations Causing Non-Classic Lipoid Adrenal Hyperplasia

DOIFull Paper Access

90

Citations

33

References

2011

Year

Christa E. Flück, Amit V. Pandey, Bernhard Dick, Núria Camats, Mónica Fernández‐Cancio, María Clemente, Miquel Gussinyé, Antonio Carrascosa, Primus E. Mullis, Laura Audí
PLoS ONE

Abstract

StAR mutations located in the cholesterol binding pocket (V187M, R188C, R192C, G221D/S) seem to cause non-classic lipoid CAH. Accuracy of genotype-phenotype prediction by in vitro testing may vary with the assays employed.

References

YearCitations

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