A Novel Double Mutation in the Luteinizing Hormone Receptor in a Kindred with Familial Leydig Cell Hypoplasia and Male Pseudohermaphroditism

By Pals-Rylaarsdam Robin   Liu Guoquan   Brickman Wendy   Duranteau Lise   Monroe Jason   El-Awady Mostafa   Gad Yehia   Shenker Andrew  

Endocrine Research, Vol. 31, Iss. 4, 2005-10 ,pp. : 307-323

Informa Healthcare

Access to resources Recommend Favorite

A novel frameshift mutation in the APC gene at exon 15 in familial adenomatous polyposis (FAP) with desmoid tumour

By Ekwueme Kingsley C.   McCarthy Emma   Healey Claire   Ellis Anthony   Rooney Paul S.  

Scandinavian Journal of Gastroenterology, Vol. 42, Iss. 6, 2007-01 ,pp. : 788-790

Informa Healthcare

Access to resources Recommend Favorite

Citrate infusion test in the diagnosis of hypocalcemia due to a mutation in the calcium-sensing receptor gene

By Poppe K.   Karmali R.   Lissens W.   Vanhaelst L.   Liebaers I.   Fuss M.   Velkeniers B.  

European Journal of Internal Medicine, Vol. 13, Iss. 4, 2002-06 ,pp. : 276-279

Elsevier

Access to resources Recommend Favorite

Lack of evidence for reduced plasma apo B48 catabolism in patients with heterozygous familial hypercholesterolemia carrying the same null LDL receptor gene mutation

By Tremblay A.J.   Lamarche B.   Ruel I.   Hogue J.-C.   Bergeron J.   Gagne C.   Couture P.  

Atherosclerosis, Vol. 172, Iss. 2, 2004-02 ,pp. : 367-373

Elsevier

Access to resources Recommend Favorite

Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene

By Supornsilchai Vichit  

Endocrine, Vol. 40, Iss. 1, 2011-08 ,pp. : 62-66

Springer Publishing Company

Access to resources Recommend Favorite