Citations for
1CLAH, STAR
Congenital lipoid adrenal hyperplasia: functional characterization of three novel mutations in the STAR gene.
Bens S, Mohn A, Yüksel B, Kulle AE, Michalek M, Chiarelli F, Nuri Ozbek M, Leuschner I, Grötzinger J, Holterhus PM, Riepe FG.
J Clin Endocrinol Metab 95(3):1301-8. Epub 2010 Jan 15.PMID: 20080861 2010
2CLAH, STAR
Clinical, genetic, and functional characterization of four patients carrying partial loss-of-function mutations in the steroidogenic acute regulatory protein (StAR).
Sahakitrungruang T, Soccio RE, Lang-Muritano M, Walker JM, Achermann JC, Miller WL.
J Clin Endocrinol Metab 95(7):3352-9. Epub 2010 May 5. 2010
3STAR, CLAH
Molecular and structural analysis of two novel star mutations in patients with lipoid congenital adrenal hyperplasia.
Achermann JC, Meeks JJ, Jeffs B, Das U, Clayton PE, Brook CG, Jameson JL.
Mol Genet Metab 73(4):354-7. 2001
4STAR, CLAH
A novel compound heterozygous mutation in the steroidogenic acute regulatory protein gene in a patient with congenital lipoid adrenal hyperplasia.
Katsumata N, Kawada Y, Yamamoto Y, Noda M, Nimura A, Horikawa R, Tanaka T.
J Clin Endocrinol Metab 84(11):3983-7 1999
5STAR, CLAH
Analysis of the steroidogenic acute regulatory protein (StAR) gene in Japanese patients with congenital lipoid adrenal hyperplasia.
Nakae J, et al.
Hum Mol Genet 6 : 571-576. 1997
6STAR, CLAH
A novel splicing junction mutation in the gene for the steroidogenic acute regulatory protein causes congenital lipoid adrenal hyperplasia.
Okuyama E, Nishi N, Onishi S, Itoh S, Ishii Y, Miyanaka H, Fujita K, Ichikawa Y.
J Clin Endocrinol Metab 82(7):2337-42. 1997
7STAR, CLAH
Homozygous Q258X mutation in the steroidogenic acute regulatory gene in a Japanese patient with congenital lipoid adrenal hyperplasia.
Katsumata N, Tanae A, Shinagawa T, Nagashima-Miyokawa A, Shimizu M, Yasunaga T, Tanaka T, Hibi I.
Endocr J 44(3):441-6. 1997
8STAR, CLAH
T->A transversion 11 bp from a splice acceptor site in the human gene for steroidogenic acute regulatory protein causes congenital lipoid adrenal hyperplasia.
Tee MK, et al.
Hum Mol Genet 4 : 2299-2305. 1995