Frequent Germ-Line Mutations of the MEN1, CASR, and HRPT2/CDC73 Genes in Young Patients with Clinically Non-familial Primary Hyperparathyroidism
Lee F. Starker(Uppsala University), Tobias Carling(West Health), Richard P. Lifton(Rockefeller University), Robert Udelsman(National Institutes of Health), Alberto Delgado-Verdugo(Uppsala University), Patricia Donovan(Yale University), Tobias Åkerström(Uppsala University), William D. Long(Yale University)
Cited by 113
Related Papers
Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism
|Neuron|2011|1.3k
Liddle's syndrome: Heritable human hypertension caused by mutations in the β subunit of the epithelial sodium channel
|Cell|1994|1.3k
K <sup>+</sup> Channel Mutations in Adrenal Aldosterone-Producing Adenomas and Hereditary Hypertension
|Science|2011|983
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands
|Nature Genetics|2017|930