Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype

Claudio Carta; Francesca Pantaleoni; Gianfranco Bocchinfuso; Lorenzo Stella; Isabella Vasta; Anna Sarkozy; Cristina Digilio; Antonio Palleschi; Antonio Pizzuti; Paola Grammatico; Giuseppe Zampino; Bruno Dallapiccola; Bruce D. Gelb; Marco Tartaglia

doi:10.1086/504394

Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype

Claudio Carta, Francesca Pantaleoni, Gianfranco Bocchinfuso, Lorenzo Stella, Isabella Vasta, Anna Sarkozy, Cristina Digilio, Antonio Palleschi, Antonio Pizzuti, Paola Grammatico, Giuseppe Zampino, Bruno Dallapiccola, Bruce D. Gelb, Marco Tartaglia

Risultato della ricerca: Contributo in rivista › Articolo in rivista

177 Citazioni (Scopus)

Lingua originale	English
pagine (da-a)	129-135
Numero di pagine	7
Rivista	American Journal of Human Genetics
DOI	https://doi.org/10.1086/504394
Stato di pubblicazione	Pubblicato - 2006

Keywords

Germline mutations
KRAS Isoform B
Noonan syndrome

Accesso al documento

10.1086/504394

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Carta, C., Pantaleoni, F., Bocchinfuso, G., Stella, L., Vasta, I., Sarkozy, A., Digilio, C., Palleschi, A., Pizzuti, A., Grammatico, P., Zampino, G., Dallapiccola, B., Gelb, B. D., & Tartaglia, M. (2006). Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype. American Journal of Human Genetics, 129-135. https://doi.org/10.1086/504394

@article{3362a861e2a84b2d811fd8885bd159df,

title = "Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype",

keywords = "Germline mutations, KRAS Isoform B, Noonan syndrome, Germline mutations, KRAS Isoform B, Noonan syndrome",

author = "Claudio Carta and Francesca Pantaleoni and Gianfranco Bocchinfuso and Lorenzo Stella and Isabella Vasta and Anna Sarkozy and Cristina Digilio and Antonio Palleschi and Antonio Pizzuti and Paola Grammatico and Giuseppe Zampino and Bruno Dallapiccola and Gelb, {Bruce D.} and Marco Tartaglia",

year = "2006",

doi = "10.1086/504394",

language = "English",

pages = "129--135",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "University of Chicago Press:PO Box 37005, Journals Division:Chicago, IL 60637:(877)705-1878, (877)705-1878, (773)753-2247, EMAIL: subscriptions@press.uchicago.edu, INTERNET: http://www.press.uchicago.edu, Fax: (877)705-1879, (773)753-0811",

}

Carta, C, Pantaleoni, F, Bocchinfuso, G, Stella, L, Vasta, I, Sarkozy, A, Digilio, C, Palleschi, A, Pizzuti, A, Grammatico, P, Zampino, G, Dallapiccola, B, Gelb, BD & Tartaglia, M 2006, 'Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype', American Journal of Human Genetics, pagg. 129-135. https://doi.org/10.1086/504394

TY - JOUR

T1 - Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype

AU - Carta, Claudio

AU - Pantaleoni, Francesca

AU - Bocchinfuso, Gianfranco

AU - Stella, Lorenzo

AU - Vasta, Isabella

AU - Sarkozy, Anna

AU - Digilio, Cristina

AU - Palleschi, Antonio

AU - Pizzuti, Antonio

AU - Grammatico, Paola

AU - Zampino, Giuseppe

AU - Dallapiccola, Bruno

AU - Gelb, Bruce D.

AU - Tartaglia, Marco

PY - 2006

Y1 - 2006

KW - Germline mutations

KW - KRAS Isoform B

KW - Noonan syndrome

KW - Germline mutations

KW - KRAS Isoform B

KW - Noonan syndrome

UR - http://hdl.handle.net/10807/37021

U2 - 10.1086/504394

DO - 10.1086/504394

M3 - Article

SN - 0002-9297

SP - 129

EP - 135

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

ER -