Titre:
  • Mutations of calcium-sensing receptor gene: two novel mutations and overview of impact on calcium homeostasis.
Auteur:Livadariu, Elena; Auriemma, Renata S; Rydlewski, C.; Vandeva, Silvia; Hamoir, E; Burlacu, Maria C; Maweja, Sylvie; Thonnard, Anne S; Betea, Daniela; Vassart, Gilbert; Daly, Adrian F; Beckers, A
Informations sur la publication:European journal of endocrinology, 165, 2, page (353-358)
Statut de publication:Publié, 2011-08
Sujet CREF:Sciences biomédicales
MeSH keywords:Adolescent
Calcium -- metabolism
DNA Mutational Analysis
Female
Homeostasis -- genetics -- physiology
Humans
Hypercalcemia -- genetics
Hypocalcemia -- genetics
Male
Middle Aged
Mutation -- physiology
Pedigree
Receptors, Calcium-Sensing -- genetics
Siblings
Note générale:Case Reports
Journal Article
SCOPUS: ar.j
Langue:Anglais
Identificateurs:urn:issn:0804-4643
info:doi/10.1530/EJE-11-0121
info:pii/EJE-11-0121
info:scp/79960158115
info:pmid/21566074