Mutations of the gene encoding the protein kinase a type I-α regulatory subunit (PRKAR1A) in patients with the "complex of spotty skin pigmentation, myxomas, endocrine overactivity, and schwannomas" (Carney complex)

Annals of the New York Academy of Sciences

Volumn 968, Issue , 2002, Pages 3-21

  Stratakis, Constantine A ^a  

^a EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

Author keywords

Amplification; Carney complex; Chromosome 17; Protein kinase A; Regulatory subunit; Tumor suppressor gene

Indexed keywords

CYCLIC AMP DEPENDENT PROTEIN KINASE;

ALBRIGHT SYNDROME; ALLELE; AUTOSOMAL DOMINANT DISORDER; CARCINOGENIC ACTIVITY; CARNEY COMPLEX; CHROMOSOME 17Q; CHROMOSOME 2P; CONFERENCE PAPER; DELETION MUTANT; ENDOCRINE DISEASE; ENZYME ACTIVITY; FRAMESHIFT MUTATION; GENE INACTIVATION; GENE INSERTION; GENE MAPPING; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENOTYPE; HETEROZYGOSITY LOSS; INHERITANCE; MOLECULAR GENETICS; MULTIPLE ENDOCRINE NEOPLASIA; MYXOMA; NEURILEMOMA; NONSENSE MUTATION; PHENOTYPE; REGULATORY SEQUENCE; SEGREGATION ANALYSIS; SIGNAL TRANSDUCTION; SKIN PIGMENTATION; TUMOR SUPPRESSOR GENE;

INSERTION SEQUENCES; NOTOLABRUS CELIDOTUS;

EID: 0036291278     PISSN: 00778923     EISSN: None     Source Type: Book Series    
DOI: 10.1111/j.1749-6632.2002.tb04323.x     Document Type: Conference Paper

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