Case report of familial Carney complex due to novel frameshift mutation c.597del C (p.Phe200LeufsX6) in PRKAR1A

Molecular Genetics and Metabolism

Volumn 95, Issue 3, 2008, Pages 182-187

  Sasaki, Akihiko ^a   Horikawa, Yukio ^a,b   Suwa, Tetsuya ^a   Enya, Mayumi ^a   Kawachi, Shin ichi ^a   Takeda, Jun ^a  

^a GIFU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b GUNMA UNIVERSITY   (Japan)

Author keywords

Acromegaly; Carney complex; Cushing syndrome; Mutation; PPNAD; PRKAR1A

Indexed keywords

CYCLIC AMP DEPENDENT PROTEIN KINASE; DEXAMETHASONE; GROWTH HORMONE; HYDROCORTISONE; PROTEIN PRKAR1A; SOMATOSTATIN DERIVATIVE; UNCLASSIFIED DRUG;

ACROMEGALY; ADRENAL DISEASE; ADRENALECTOMY; ADULT; ANAMNESIS; ARTICLE; CARNEY COMPLEX; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; CUSHING SYNDROME; DNA FLANKING REGION; DNA SEQUENCE; EXON; FAMILY HISTORY; FEMALE; FRAMESHIFT MUTATION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; HYPOPHYSIS ADENOMA; LABORATORY TEST; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIMARY PIGMENTED NODULAR ADRENOCORTICAL DISEASE; PRIORITY JOURNAL; STOP CODON;

ADRENAL CORTEX DISEASES; ADULT; BASE SEQUENCE; CYCLIC AMP-DEPENDENT PROTEIN KINASE RIALPHA SUBUNIT; EXONS; FEMALE; FRAMESHIFT MUTATION; HUMANS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; PEDIGREE; POINT MUTATION; PROTEIN STRUCTURE, TERTIARY;

EID: 53749103448     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2008.07.009     Document Type: Article

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