SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations. (Record no. 20659852)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02421 a2200769 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516025814.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201110s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1098-1004 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/humu.21492 |
| 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 | Lepri, Francesca |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20111014 |
| 245 00 - TITLE STATEMENT | |
| Title | SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human mutation |
| Date of publication, distribution, etc. | Jul 2011 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 760-72 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adolescent |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adult |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Child |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exons |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Female |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Association Studies |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Heart Septal Defects, Atrial |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Heart Septal Defects, Ventricular |
| General subdivision | genetics |
| 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 | INDEL Mutation |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Introns |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mitogen-Activated Protein Kinase Kinases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation, Missense |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Noonan Syndrome |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Protein Conformation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pulmonary Valve Stenosis |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | SOS1 Protein |
| General subdivision | chemistry |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | De Luca, Alessandro |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stella, Lorenzo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rossi, Cesare |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Baldassarre, Giuseppina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pantaleoni, Francesca |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cordeddu, Viviana |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Williams, Bradley J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dentici, Maria L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Caputo, Viviana |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Venanzi, Serenella |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bonaguro, Michela |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kavamura, Ines |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Faienza, Maria F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pilotta, Alba |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stanzial, Franco |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Faravelli, Francesca |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gabrielli, Orazio |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Marino, Bruno |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Neri, Giovanni |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Silengo, Margherita Cirillo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ferrero, Giovanni B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Torrrente, Isabella |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Selicorni, Angelo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mazzanti, Laura |
| 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 | Dallapiccola, Bruno |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gelb, Bruce D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tartaglia, Marco |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human mutation |
| Related parts | vol. 32 |
| -- | no. 7 |
| -- | p. 760-72 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/humu.21492">https://doi.org/10.1002/humu.21492</a> |
| Public note | Available from publisher's website |
No items available.