Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. (Record no. 17139848)
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| fixed length control field | 02425 a2200721 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515073345.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200709s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1061-4036 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/ng2073 |
| Source of number or code | doi |
| 040 ## - CATALOGING SOURCE | |
| Original cataloging agency | NLM |
| Language of cataloging | eng |
| Transcribing agency | NLM |
| 100 1# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Pandit, Bhaswati |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20070919 |
| 245 00 - TITLE STATEMENT | |
| Title | Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Nature genetics |
| Date of publication, distribution, etc. | Aug 2007 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1007-12 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S. |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Animals |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | COS Cells |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cardiomyopathy, Hypertrophic |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chlorocebus aethiops |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Humans |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Intracellular Signaling Peptides and Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | LEOPARD Syndrome |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation, Missense |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Noonan Syndrome |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Protein Structure, Tertiary |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Protein Tyrosine Phosphatase, Non-Receptor Type 11 |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Protein Tyrosine Phosphatases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Proto-Oncogene Proteins c-raf |
| General subdivision | chemistry |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Signal Transduction |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Transfection |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | ras Proteins |
| General subdivision | metabolism |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sarkozy, Anna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pennacchio, Len A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Carta, Claudio |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Oishi, Kimihiko |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Martinelli, Simone |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pogna, Edgar A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schackwitz, Wendy |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ustaszewska, Anna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Landstrom, Andrew |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bos, J Martijn |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ommen, Steve R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Esposito, Giorgia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lepri, Francesca |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Faul, Christian |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mundel, Peter |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | López Siguero, Juan P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tenconi, Romano |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Selicorni, Angelo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rossi, Cesare |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mazzanti, Laura |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Torrente, Isabella |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Marino, Bruno |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Digilio, Maria C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zampino, Giuseppe |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ackerman, Michael J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dallapiccola, Bruno |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tartaglia, Marco |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gelb, Bruce D |
| 773 0# - HOST ITEM ENTRY | |
| Title | Nature genetics |
| Related parts | vol. 39 |
| -- | no. 8 |
| -- | p. 1007-12 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/ng2073">https://doi.org/10.1038/ng2073</a> |
| Public note | Available from publisher's website |
No items available.