Functional relationships between three novel homozygous mutations in the ACTH receptor gene and familial glucocorticoid deficiency

Author： Penhoat A.   Naville D.   El Mourabit H.   Buronfosse A.   Berberoglu M.   Ocal G.   Tsigos C.   Durand P.   Bégeot M.  

Publisher： Springer Publishing Company

ISSN： 0946-2716

Source： Journal of Molecular Medicine, Vol.80, Iss.7, 2002-07, pp. : 406-411

Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.

Previous Menu Next

Related content

Familial glucocorticoid deficiency syndromes

By Luft Friedrich  

Journal of Molecular Medicine, Vol. 80, Iss. 7, 2002-07 ,pp. : 385-386

Springer Publishing Company

Access to resources Recommend Favorite

Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism associated with mutations in the human Ca2+-sensing receptor gene in three Danish families

By Schwarz P.   Larsen N. E.   Lønborg Friis I. M.   Lillquist K.   Brown E. M.   Gammeltoft S.  

Scandinavian Journal of Clinical and Laboratory Investigation, Vol. 60, Iss. 3, 2000-06 ,pp. : 221-228

Informa Healthcare

Access to resources Recommend Favorite

Mutations in the novel gene FOPV are associated with familial autosomal dominant and non‐familial obliterative portal venopathy

By  

LIVER INTERNATIONAL (ELECTRONIC), Vol. 38, Iss. 2, 2018-02 ,pp. : 358-364

John Wiley & Sons Inc

Access to resources Recommend Favorite

Two novel mutations in the LOR gene in three families with loricrin keratoderma

By  

BRITISH JOURNAL OF DERMATOLOGY, Vol. 172, Iss. 4, 2015-04 ,pp. : 1158-1162

John Wiley & Sons Inc

Access to resources Recommend Favorite

Homozygous familial hypercholesterolemia

By Wierzbicki Anthony S  

Clinical Lipidology, Vol. 8, Iss. 4, 2013-08 ,pp. : 407-409

Future Medicine

Access to resources Recommend Favorite