Determining the pathogenicity of patient-derived TSC2 mutations by functional characterization and clinical evidence. (Record no. 20678381)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02108 a2200637 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516030419.0 |
| 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 | 1476-5438 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/ejhg.2011.38 |
| 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 | Dunlop, Elaine A |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20111005 |
| 245 00 - TITLE STATEMENT | |
| Title | Determining the pathogenicity of patient-derived TSC2 mutations by functional characterization and clinical evidence. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | European journal of human genetics : EJHG |
| Date of publication, distribution, etc. | Jul 2011 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 789-95 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, Non-U.S. Gov't |
| 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 | Animals |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cells, Cultured |
| 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 | Child, Preschool |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Diseases, Inborn |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | HEK293 Cells |
| 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 | Infant |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mechanistic Target of Rapamycin Complex 1 |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mice |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Multiprotein Complexes |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation |
| 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 | Phosphorylation |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Protein Multimerization |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Protein Stability |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Proteins |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | TOR Serine-Threonine Kinases |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Tuberous Sclerosis Complex 1 Protein |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Tuberous Sclerosis Complex 2 Protein |
| 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 | Dodd, Kayleigh M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Land, Stephen C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Davies, Peter A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Martins, Nicole |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stuart, Helen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | McKee, Shane |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kingswood, Chris |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Saggar, Anand |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Corderio, Isabel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Medeira, Ana Maria Duarte |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kingston, Helen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sampson, Julian R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Davies, David Mark |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tee, Andrew R |
| 773 0# - HOST ITEM ENTRY | |
| Title | European journal of human genetics : EJHG |
| Related parts | vol. 19 |
| -- | no. 7 |
| -- | p. 789-95 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/ejhg.2011.38">https://doi.org/10.1038/ejhg.2011.38</a> |
| Public note | Available from publisher's website |
No items available.