Demonstration by transfection studies that mutations in the adrenocorticotropin receptor gene are one cause of the hereditary syndrome of glucocorticoid deficiency
about
Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family.Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia.Homozygous nonsense and frameshift mutations of the ACTH receptor in children with familial glucocorticoid deficiency (FGD) are not associated with long-term mineralocorticoid deficiencyFamilial glucocorticoid deficiency with a point mutation in the ACTH receptor: a case report.ACTH Receptor (MC2R) Specificity: What Do We Know About Underlying Molecular Mechanisms?Molecular identification of the human melanocortin-2 receptor responsible for ligand binding and signaling.Third transmembrane domain of the adrenocorticotropic receptor is critical for ligand selectivity and potency.
P2860
Q30497400-F1E554ED-C4A1-45AC-91F1-9207F3C7CC5EQ35768783-19B75795-DDEA-4A11-BED9-20379833DCD9Q37310420-AE26E19F-60B8-44DF-A2BD-9FCBC7437804Q37364587-9C4590EC-99D2-4DCA-AD4E-6ECB6F1CACF0Q38715577-8424CE69-036E-494E-B243-6915B00DB7FAQ39123137-5C3801A8-534D-43DF-8888-F0F808EF45FBQ41552581-1A3ECAD8-C4DC-4908-A50F-C4A272DCD3B0
P2860
Demonstration by transfection studies that mutations in the adrenocorticotropin receptor gene are one cause of the hereditary syndrome of glucocorticoid deficiency
description
1996 nî lūn-bûn
@nan
1996 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
Demonstration by transfection ...... e of glucocorticoid deficiency
@ast
Demonstration by transfection ...... e of glucocorticoid deficiency
@en
Demonstration by transfection ...... e of glucocorticoid deficiency
@nl
type
label
Demonstration by transfection ...... e of glucocorticoid deficiency
@ast
Demonstration by transfection ...... e of glucocorticoid deficiency
@en
Demonstration by transfection ...... e of glucocorticoid deficiency
@nl
prefLabel
Demonstration by transfection ...... e of glucocorticoid deficiency
@ast
Demonstration by transfection ...... e of glucocorticoid deficiency
@en
Demonstration by transfection ...... e of glucocorticoid deficiency
@nl
P2093
P1476
Demonstration by transfection ...... e of glucocorticoid deficiency
@en
P2093
Barjhoux L
Jaillard C
P304
P356
10.1210/JCEM.81.4.8636348
P407
P577
1996-04-01T00:00:00Z