Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

Nature Genetics

Volumn 29, Issue 4, 2001, Pages 465-468

  Tartaglia, Marco ^a,f   Mehler, Ernest L ^a   Goldberg, Rosalie ^b   Zampino, Giuseppe ^c   Brunner, Han G ^d   Kremer, Hannie ^d   Van der Burgt, Ineke ^d   Crosby, Andrew H ^e   Ion, Andra ^e   Jeffery, Steve ^e   Kalidas, Kamini ^e   Patton, Michael A ^e   Kucherlapati, Raju S ^b   Gelb, Bruce D ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^c CATHOLIC UNIVERSITY   (Italy)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^e ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^f ISTITUTO SUPERIORE DI SANITÀ   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; PROTEIN KINASE P60; PROTEIN PTPN11; PROTEIN TYROSINE PHOSPHATASE; PROTEIN TYROSINE PHOSPHATASE SHP 2; UNCLASSIFIED DRUG;

ARTICLE; ENZYME ACTIVITY; ENZYME CONFORMATION; GENE FUNCTION; GENE MAPPING; GENE SEQUENCE; HUMAN; HUMAN TISSUE; MISSENSE MUTATION; NOONAN SYNDROME; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DOMAIN; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY; STRUCTURE ANALYSIS;

CHROMOSOMES, HUMAN, PAIR 12; GENETIC HETEROGENEITY; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NOONAN SYNDROME; PROTEIN CONFORMATION; PROTEIN-TYROSINE-PHOSPHATASE; SHP1 PROTEIN TYROSINE PHOSPHATASE;

EID: 18344385476     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng772     Document Type: Article

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