Condition: McCune-Albright Syndrome
rs11554273 in
GNAS gene and
McCune-Albright Syndrome
PMID 23536913 2013 Quantitative and sensitive detection of GNAS mutations causing mccune-albright syndrome with next generation sequencing.
PMID 15126527 2004 Activating Gsalpha mutations: analysis of 113 patients with signs of McCune-Albright syndrome--a European Collaborative Study.
PMID 17493233 2007 A sensitive mutation-specific screening technique for GNAS1 mutations in cases of fibrous dysplasia: the first report of a codon 227 mutation in bone.
PMID 1944469 1991 Activating mutations of the stimulatory G protein in the McCune-Albright syndrome.
PMID 7751320 1995 Overexpression of Gs alpha subunit in thyroid tumors bearing a mutated Gs alpha gene.
PMID 1594625 1992 Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome.
PMID 10571700 1999 A novel GNAS1 mutation, R201G, in McCune-albright syndrome.
PMID 11029463 2001 Selective resistance to parathyroid hormone caused by a novel uncoupling mutation in the carboxyl terminus of G alpha(s). A cause of pseudohypoparathyroidism type Ib.
PMID 8699958 1996 Clinical implications of genetic defects in G proteins. The molecular basis of McCune-Albright syndrome and Albright hereditary osteodystrophy.