Germline gain-of-function mutations in RAF1 cause Noonan syndrome

Nature Genetics

Volumn 39, Issue 8, 2007, Pages 1013-1017

  Razzaque, M Abdur ^a   Nishizawa, Tsutomu ^a   Komoike, Yuta ^a,b   Yagi, Hisato ^a   Furutani, Michiko ^a   Amo, Ryunosuke ^a,b   Kamisago, Mitsuhiro ^a   Momma, Kazuo ^a   Katayama, Hiroshi ^c   Nakagawa, Masao ^d   Fujiwara, Yuko ^e   Matsushima, Masaki ^f   Mizuno, Katsumi ^g   Tokuyama, Mika ^h   Hirota, Hamao ⁱ   Muneuchi, Jun ^j   Higashinakagawa, Toru ^b   Matsuoka, Rumiko ^a  

^a TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^b WASEDA UNIVERSITY   (Japan)

^c OSAKA MEDICAL COLLEGE   (Japan)

^d SHIGA UNIVERSITY OF MEDICAL SCIENCE   (Japan)

^e JIKEI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^f CHUKYO HOSPITAL   (Japan)

^g CHIBA CHILDREN'S HOSPITAL   (Japan)

^h TOHO UNIVERSITY   (Japan)

ⁱ KITASATO UNIVERSITY   (Japan)

^j KYUSHU UNIVERSITY   (Japan)

more..

Author keywords

[No Author keywords available]

Indexed keywords

MITOGEN ACTIVATED PROTEIN KINASE; PHOSPHOTRANSFERASE; RAF PROTEIN;

ANIMAL EXPERIMENT; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; EMBRYO; ENZYME ACTIVATION; GENE CONSTRUCT; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC TRANSFECTION; HEART FUNCTION; HEART MUSCLE; HUMAN; HUMAN CELL; HYPERTROPHIC CARDIOMYOPATHY; IN VITRO STUDY; NONHUMAN; NOONAN SYNDROME; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DOMAIN; ZEBRA FISH;

ANIMALS; CELL LINE; CELL LINE, TRANSFORMED; FEMALE; HEART; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MUTATION, MISSENSE; MYOCARDIUM; NOONAN SYNDROME; PROTEIN STRUCTURE, TERTIARY; PROTEIN-TYROSINE-PHOSPHATASE; PROTO-ONCOGENE PROTEINS C-RAF; ZEBRAFISH; ZEBRAFISH PROTEINS;

DANIO RERIO;

EID: 34547539552     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng2078     Document Type: Article

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