Citations for
1
HSD11B2, HSD11B2D
Impaired protein stability of 11beta-hydroxysteroid dehydrogenase type 2: a novel mechanism of apparent mineralocorticoid excess.
Atanasov AG, Ignatova ID, Nashev LG, Dick B, Ferrari P, Frey FJ, Odermatt A.
J Am Soc Nephrol 18(4):1262-70. Epub 2007 Feb 21. 2007
2
HSD11B2, HSD11B2D
Late-onset apparent mineralocorticoid excess caused by novel compound heterozygous mutations in the HSD11B2 gene.
Lavery GG, Ronconi V, Draper N, Rabbitt EH, Lyons V, Chapman KE, Walker EA, McTernan CL, Giacchetti G, Mantero F, Seckl JR, Edwards CR, Connell JM, Hewison M, Stewart PM.
Hypertension 42(2):123-9. Epub 2003 Jul 14. 2003
3
HSD11B2, HSD11B2D
The codon 213 of the 11beta-hydroxysteroid dehydrogenase type 2 gene is a hot spot for mutations in apparent mineralocorticoid excess.
Rogoff D, et al.
J Clin Endocrinol Metab 83 : 4391-4393. 1998
4
HSD11B2, HSD11B2D
Hypertension in the syndrome of apparent mineralocorticoid excess due to mutation of the 11beta-hydroxysteroid dehydrogenase type 2 gene.
Stewart PM, et al.
Lancet 347 : 88-91. 1996
5
HSD11B2, HSD11B2D
A mutation in the HSD11B2 gene in a family with apparent mineralocorticoid excess.
Wilson RC, et al.
J Clin Endocrinol Metab 80 : 2263-2266. 1995
6
HSD11B2, HSD11B2D
Several homozygous mutations in the gene for 11beta-hydroxysteroid dehydrogenase type 2 in patients with apparent mineralocorticoid excess.
Wilson RC, et al.
J Clin Endocrinol Metab 80 : 3145-3150. 1995