A novel GNAS1 mutation, R201G, in McCune - Albright syndrome

Journal of Bone and Mineral Research

Volumn 14, Issue 11, 1999, Pages 1987-1989

  Riminucci, Mara ^a   Fisher, Larry W ^b   Majolagbe, Adesola ^b   Corsi, Alessandro ^a   Lala, Roberto ^c   De Sanctis, Carlo ^c   Gehron Robey, Pamela ^b   Bianco, Paolo ^a  

^a UNIVERSITY OF L'AQUILA   (Italy)

^b NATIONAL INSTITUTE OF DENTAL AND CRANIOFACIAL RESEARCH   (United States)

^c REGINA MARGHERITA CHILDREN S HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ALBRIGHT SYNDROME; AMINO ACID SUBSTITUTION; ARTICLE; CAFE AU LAIT SPOT; CASE REPORT; CLINICAL FEATURE; CODON; FACE DEFORMITY; HUMAN; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRECOCIOUS PUBERTY; SCHOOL CHILD;

FIBROUS DYSPLASIA, POLYOSTOTIC; GTP-BINDING PROTEIN ALPHA SUBUNITS, GS; HUMANS; POINT MUTATION;

EID: 0032730588     PISSN: 08840431     EISSN: None     Source Type: Journal    
DOI: 10.1359/jbmr.1999.14.11.1987     Document Type: Article

References (13)

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2. Shenker A, Weinstein LS, Sweet DE, Spiegel AM 1994 An activating Gs alpha mutation is present in fibrous dysplasia of bone in the McCune-Albright syndrome. J Clin Endocrinol Metab 79:750-755.
3. Weinstein LS, Shenker A, Gejman PV, Merino MJ, Friedman E, Spiegel AM 1991 Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. N Engl J Med 325:1688-1695.
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