Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase a (PRKAR1A): An update

Human Mutation

Volumn 31, Issue 4, 2010, Pages 369-379

  Horvath, Anélia ^a   Bertherat, Jérôme ^b,c,d   Groussin, Lionel ^b,c,d   Guillaud Bataille, Marine ^b,d   Tsang, Kitman ^a   Cazabat, Laure ^b   Libé, Rosella ^b,c   Remmers, Elaine ^e   René Corail, Fernande ^b,c   Faucz, Fabio Rueda ^a,f   Clauser, Eric ^b,d   Calender, Alain ^g   Bertagna, Xavier ^b,c,d   Carney, J Aidan ^h   Stratakis, Constantine A ^a  

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

^b INSTITUT COCHIN   (France)

^c UNIVERSITÉ PARIS DESCARTES   (France)

^d Hôpital Cochin ^*  (France)

^e NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES   (United States)

^f PONTIFICAL CATHOLIC UNIVERSITY OF PARANÁ   (Brazil)

^g UNIVERSITÉ LYON 1   (France)

^h MAYO CLINIC   (United States)

Author keywords

Carney complex; CNC; Mutations; PKA; Polymorphisms; PRKAR1A

Indexed keywords

CYCLIC AMP DEPENDENT PROTEIN KINASE REGULATORY SUBUNIT IALPHA;

AMINO ACID SUBSTITUTION; DNA POLYMORPHISM; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC CODE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INDEL MUTATION; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; REVIEW; SEQUENCE ANALYSIS; SPLICE VARIANT;

ALTERNATIVE SPLICING; CARNEY COMPLEX; CYCLIC AMP-DEPENDENT PROTEIN KINASE RIALPHA SUBUNIT; FRAMESHIFT MUTATION; GENETIC ASSOCIATION STUDIES; HUMANS; MUTATION; PENETRANCE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE DELETION;

EID: 77950427180     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21178     Document Type: Review

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