Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome

Science

Volumn 311, Issue 5765, 2006, Pages 1287-1290

  Rodriguez Viciana, Pablo ^a   Tetsu, Osamu ^a,b   Tidyman, William E ^c   Estep, Anne L ^a   Conger, Brenda A ^d   Cruz, Molly Santa ^d   McCormick, Frank ^a,c   Rauen, Katherine A ^a,c  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d CFC International   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACIDS; BIODIVERSITY; DISEASES; NATURAL SCIENCES; TUMORS;

B-RAF ACTIVATION; CARDIO-FACIO-CUTANEOUS SYNDROME; DOWNSTREAM EFFECTORS; FREQUENTLY MUTATED; GERMLINE MUTATIONS; HUMAN DEVELOPMENT; MAPK; MOLECULAR DIAGNOSIS;

GENES;

B RAF KINASE; MITOGEN ACTIVATED PROTEIN KINASE; MITOGEN ACTIVATED PROTEIN KINASE KINASE 1; MITOGEN ACTIVATED PROTEIN KINASE KINASE 2;

MEDICINE; MUTATION;

AMINO ACID SUBSTITUTION; ARTICLE; BRAF GENE; CANCER; CARDIOFACIOCUTANEOUS SYNDROME; CLINICAL FEATURE; CONGENITAL HEART DISEASE; DEVELOPMENTAL DISORDER; DIAGNOSTIC PROCEDURE; ENZYME PHOSPHORYLATION; FACE MALFORMATION; GENE; GENE ACTIVATION; GENE MUTATION; GERM LINE; HUMAN; MISSENSE MUTATION; MULTIPLE MALFORMATION SYNDROME; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SKIN MALFORMATION;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; CHILD; CHILD, PRESCHOOL; CRANIOFACIAL ABNORMALITIES; EXTRACELLULAR SIGNAL-REGULATED MAP KINASES; FEMALE; GERM-LINE MUTATION; GROWTH DISORDERS; HEART DEFECTS, CONGENITAL; HUMANS; INFANT; MALE; MAP KINASE KINASE 1; MAP KINASE KINASE 2; MAP KINASE KINASE KINASES; MAP KINASE SIGNALING SYSTEM; MITOGEN-ACTIVATED PROTEIN KINASES; MUTATION, MISSENSE; PHOSPHORYLATION; PROTO-ONCOGENE PROTEINS B-RAF; SKIN ABNORMALITIES; SYNDROME; TRANSFECTION;

EID: 33644696097     PISSN: 00368075     EISSN: 10959203     Source Type: Journal    
DOI: 10.1126/science.1124642     Document Type: Article

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