Germline mutation in BRAF codon 600 is compatible with human development: De novo p.V600G mutation identified in a patient with CFC syndrome

Clinical Genetics

Volumn 79, Issue 5, 2011, Pages 468-474

  Champion, K J ^a   Bunag, C ^b   Estep, A L ^b   Jones, J R ^a   Bolt, C H ^a   Rogers, R C ^a   Rauen, K ^b,c   Everman, D ^a  

^a GREENWOOD GENETIC CENTER   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

BRAF; Cardio facio cutaneous syndrome; Germline; P.V600E; P.V600G; Ras MAPK pathway; RASopathy; Signal transduction

Indexed keywords

B RAF KINASE; GLYCINE; MITOGEN ACTIVATED PROTEIN KINASE; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR ELK; UNCLASSIFIED DRUG; VALINE;

AMINO ACID SUBSTITUTION; ARTICLE; CARDIOFACIOCUTANEOUS SYNDROME; CASE REPORT; CHILD; CODON; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; ENZYME PHOSPHORYLATION; FEMALE; GENE MUTATION; GENE SEQUENCE; GERM LINE; GERMLINE MUTATION; HETEROZYGOTE; HUMAN; HUMAN CELL; HUMAN DEVELOPMENT; MALFORMATION SYNDROME; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; WILD TYPE;

ADULT; BASE SEQUENCE; CHILD, PRESCHOOL; CODON; ECTODERMAL DYSPLASIA; EXTRACELLULAR SIGNAL-REGULATED MAP KINASES; FACE; FACIES; FAILURE TO THRIVE; FEMALE; GENOTYPE; GERM-LINE MUTATION; HEART DEFECTS, CONGENITAL; HUMANS; MALE; MOLECULAR SEQUENCE DATA; PHENOTYPE; PROTO-ONCOGENE PROTEINS B-RAF;

EID: 79953738626     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01495.x     Document Type: Article

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