Mutational analysis of GNAS1 in patients with pseudohypoparathyroidism: Identification of two novel mutations

Journal of Clinical Endocrinology and Metabolism

Volumn 85, Issue 11, 2000, Pages 4243-4248

  Mantovani, G ^a   Romoli, R ^a   Weber, G ^a   Brunelli, V ^a   De Menis, E ^a   Beccio, S ^a   Beck Peccoz, P ^a   Spada, A ^a  

^a FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

STIMULATORY GUANINE NUCLEOTIDE BINDING PROTEIN;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CLINICAL ARTICLE; FAMILY STUDY; FEMALE; FRAMESHIFT MUTATION; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HETEROZYGOSITY; HUMAN; MALE; MOLECULAR GENETICS; PRIORITY JOURNAL; PSEUDOHYPOPARATHYROIDISM; STOP CODON;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; GTP-BINDING PROTEIN ALPHA SUBUNITS, GS; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; ONCOGENE PROTEINS; PSEUDOHYPOPARATHYROIDISM; SEQUENCE DELETION;

EID: 0034527616     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.85.11.4243     Document Type: Article

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