Heterozygous germline mutations in the CBL tumor-suppressor gene cause a noonan syndrome-like phenotype

American Journal of Human Genetics

Volumn 87, Issue 2, 2010, Pages 250-257

  Martinelli, Simone ^a   De Luca, Alessandro ^b   Stellacci, Emilia ^a   Rossi, Cesare ^c   Checquolo, Saula ^d   Lepri, Francesca ^b   Caputo, Viviana ^a   Silvano, Marianna ^a   Buscherini, Francesco ^c   Consoli, Federica ^b   Ferrara, Grazia ^d   Digilio, Maria C ^e   Cavaliere, Maria L ^f   Van Hagen, Johanna M ^g   Zampino, Giuseppe ^h   Van Der Burgt, Ineke ⁱ   Ferrero, Giovanni B ^j   Mazzanti, Laura ^k   Screpanti, Isabella ^d   Yntema, Helger G ⁱ   Nillesen, Willy M ⁱ   Savarirayan, Ravi ^l   Zenker, Martin ^m   Dallapiccola, Bruno ^e   Gelb, Bruce D ⁿ   Tartaglia, Marco ^a   more..

^a ISTITUTO SUPERIORE DI SANITÀ   (Italy)

^b CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^c UNIVERSITY OF BOLOGNA   (Italy)

^d SAPIENZA UNIVERSITY OF ROME   (Italy)

^e BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^f CARDARELLI HOSPITAL   (Italy)

^g VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^h CATHOLIC UNIVERSITY   (Italy)

ⁱ RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^j UNIVERSITY OF TURIN   (Italy)

^k UNIVERSITY OF BOLOGNA   (Italy)

^l ROYAL CHILDREN'S HOSPITAL   (Australia)

^m UNIVERSITY HOSPITAL MAGDEBURG   (Germany)

ⁿ MOUNT SINAI SCHOOL OF MEDICINE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADAPTOR PROTEIN; CBL PROTEIN; PROTEIN TYROSINE KINASE; RAS PROTEIN; UBIQUITIN PROTEIN LIGASE E3;

AMINO TERMINAL SEQUENCE; ARTICLE; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; ENZYME ACTIVITY; FEMALE; GENE IDENTIFICATION; GENE MUTATION; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NOONAN SYNDROME; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; RING FINGER MOTIF; SIGNAL TRANSDUCTION; TUMOR SUPPRESSOR GENE; UBIQUITINATION;

AMINO ACID SUBSTITUTION; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; FEMALE; GERM-LINE MUTATION; HETEROZYGOTE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTANT PROTEINS; NOONAN SYNDROME; PHENOTYPE; PROTO-ONCOGENE PROTEINS C-CBL; TUMOR SUPPRESSOR PROTEINS;

EID: 77955583599     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2010.06.015     Document Type: Article

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