High allele frequency of the p.Q258X mutation and identification of a novel mis-splicing mutation in the STAR gene in Korean patients with congenital lipoid adrenal hyperplasia.

@article{Kim2011HighAF,
  title={High allele frequency of the p.Q258X mutation and identification of a novel mis-splicing mutation in the STAR gene in Korean patients with congenital lipoid adrenal hyperplasia.},
  author={Jae-Min Kim and Jin-ho Choi and Jung Hyun Lee and Gu-Hwan Kim and Beom Hee Lee and Hae Soon Kim and Jeh-Hoon Shin and Choong-Ho Shin and Chan Jong Kim and Jeesuk Yu and Dae-Yeol Lee and Won Kyoung Cho and Byung Kyu Suh and Ji Eun Lee and Hye Rim Chung and H. -J. Yoo},
  journal={European journal of endocrinology},
  year={2011},
  volume={165 5},
  pages={
          771-8
        }
}
OBJECTIVE Steroidogenic acute regulatory (STAR) protein plays a crucial role in steroidogenesis, and mutations in the STAR gene cause congenital lipoid adrenal hyperplasia (CLAH). This study investigated the STAR mutation spectrum and functionally analyzed a novel STAR mutation in Korean patients with CLAH. METHODS Mutation analysis of STAR was carried out in 25 unrelated Korean CLAH patients. A region of STAR comprising exons 4-7 was cloned from human genomic DNA into an expression vector… CONTINUE READING

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