Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. (Record no. 19962694)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02206 a2200661 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515231948.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201009s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1537-6605 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.ajhg.2010.06.015 |
| 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 | Martinelli, Simone |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20100901 |
| 245 00 - TITLE STATEMENT | |
| Title | Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of human genetics |
| Date of publication, distribution, etc. | Aug 2010 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 250-7 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 |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Amino Acid Substitution |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Base Sequence |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Mutational Analysis |
| 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 | Germ-Line Mutation |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Heterozygote |
| 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 | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Molecular Sequence Data |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutant Proteins |
| General subdivision | genetics |
| 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 | Phenotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Proto-Oncogene Proteins c-cbl |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Tumor Suppressor Proteins |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | De Luca, Alessandro |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stellacci, Emilia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rossi, Cesare |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Checquolo, Saula |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lepri, Francesca |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Caputo, Viviana |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Silvano, Marianna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Buscherini, Francesco |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Consoli, Federica |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ferrara, Grazia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Digilio, Maria C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cavaliere, Maria L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Hagen, Johanna M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zampino, Giuseppe |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van der Burgt, Ineke |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ferrero, Giovanni B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mazzanti, Laura |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Screpanti, Isabella |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yntema, Helger G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nillesen, Willy M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Savarirayan, Ravi |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zenker, Martin |
| 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 | American journal of human genetics |
| Related parts | vol. 87 |
| -- | no. 2 |
| -- | p. 250-7 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ajhg.2010.06.015">https://doi.org/10.1016/j.ajhg.2010.06.015</a> |
| Public note | Available from publisher's website |
No items available.