Familiäre hypocalciurische Hypercalciämie Typ 2

Heath H et al. (1992) Genetic linkage analysis in familial benign hypercalcemia using a candidate gene strategy. I. Studies in four families.

Wilkie TM et al. (1992) Evolution of the mammalian G protein alpha subunit multigene family.

Van Raamsdonk CD et al. (2004) Effects of G-protein mutations on skin color.

Kero J et al. (2007) Thyrocyte-specific Gq/G11 deficiency impairs thyroid function and prevents goiter development.

Wirth A et al. (2008) G12-G13-LARG-mediated signaling in vascular smooth muscle is required for salt-induced hypertension.

Jiang M et al. (1991) Guanine nucleotide-binding regulatory proteins in retinal pigment epithelial cells.

Strathmann MP et al. (1991) G alpha 12 and G alpha 13 subunits define a fourth class of G protein alpha subunits.

Van Raamsdonk CD et al. (2010) Mutations in GNA11 in uveal melanoma.

Nesbit MA et al. (2013) Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia.

Mannstadt M et al. (2013) Germline mutations affecting Gα11 in hypoparathyroidism.

Davignon I et al. (1996) Gene structure of murine Gna11 and Gna15: tandemly duplicated Gq class G protein alpha subunit genes.

Offermanns S et al. (1998) Embryonic cardiomyocyte hypoplasia and craniofacial defects in G alpha q/G alpha 11-mutant mice.

Memtsoudis SG et al. (2013) A rude awakening--the perioperative sleep apnea epidemic.

OMIM.ORG article

Orphanet article