Homozygous nonsense and frameshift mutations of the ACTH receptor in children with familial glucocorticoid deficiency (FGD) are not associated with long-term mineralocorticoid deficiency-Reference-Cited by-同舟云学术

Homozygous nonsense and frameshift mutations of the ACTH receptor in children with familial glucocorticoid deficiency (FGD) are not associated with long-term mineralocorticoid deficiency

Published:2009-08 Issue:2 Volume:71 Page:171-175
ISSN:0300-0664
Container-title:Clinical Endocrinology
language:en
Short-container-title:

Author:

Chan Li F.,Metherell Louise A.,Krude Heiko,Ball Colin,O'Riordan Stephen M. P.,Costigan Colm,Lynch Sally A.,Savage Martin O.,Cavarzere Paolo,Clark Adrian J. L.

Publisher

Wiley

Subject

Endocrinology, Diabetes and Metabolism,Endocrinology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2265.2008.03511.x/fullpdf

Reference15 articles.

1. The genetics of ACTH resistance syndromes;Metherell;Best Practice and Research Clinical Endocrinology and Metabolism,2006

2. Familial Glucocorticoid Deficiency associated with point mutation in the adrenocorticotropin receptor;Clark;Lancet,1993

3. Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene;Tsigos;Journal of Clinical Investigation,1993

4. Functional characterization of naturally occurring mutations of the human adrenocorticotropin receptor: poor correlation of phenotype and genotype;Elias;Journal of Clinical Endocrinology and Metabolism,1999

5. Clinical, genetic, and functional characterization of adrenocorticotropin receptor mutations using a novel receptor assay;Fluck;Journal of Clinical Endocrinology and Metabolism,2002

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