Germline PIK3CA and AKT1 mutations in cowden and cowden-like syndromes

American Journal of Human Genetics

Volumn 92, Issue 1, 2013, Pages 76-80

  Orloff, Mohammed S ^a,b   He, Xin ^a   Peterson, Charissa ^a   Chen, Fusong ^a   Chen, Jin Lian ^a   Mester, Jessica L ^a,b   Eng, Charis ^a,b,c  

^a LERNER RESEARCH INSTITUTE   (United States)

^b TAUSSIG CANCER INSTITUTE   (United States)

^c CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AKT1 PROTEIN; PHOSPHATIDYLINOSITOL 4,5 BISPHOSPHATE 3 KINASE CATALYTIC SUBUNIT ALPHA; PHOSPHOTRANSFERASE; PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; COWDEN SYNDROME; ENZYME ACTIVITY; GENE MUTATION; GENE SEQUENCE; HUMAN; IMMUNOFLUORESCENCE; INDEL MUTATION; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; UPREGULATION; WESTERN BLOTTING;

GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HAMARTOMA SYNDROME, MULTIPLE; HUMANS; PHOSPHATIDYLINOSITOL 3-KINASES; PROTO-ONCOGENE PROTEINS C-AKT; PTEN PHOSPHOHYDROLASE;

EID: 84872287369     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.10.021     Document Type: Article

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