Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. (Record no. 20649106)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02782 a2200877 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516025452.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201105s 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.2011.02.001 |
| 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 | Hamdan, Fadi F |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20110516 |
| 245 00 - TITLE STATEMENT | |
| Title | Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of human genetics |
| Date of publication, distribution, etc. | Mar 2011 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 306-16 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 | Amino Acid Substitution |
| General subdivision | genetics |
| 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 | Base Sequence |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Calcium Channels |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cytoskeletal Proteins |
| General subdivision | genetics |
| 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 | Glutamic Acid |
| General subdivision | genetics |
| 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 | Intellectual Disability |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Kinesins |
| General subdivision | genetics |
| 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 | Membrane Proteins |
| General subdivision | genetics |
| 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 | Mutation, Missense |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Neuropeptides |
| 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 | Protein Binding |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Protein Transport |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | RNA Splicing |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Rats |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Receptors, AMPA |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Receptors, N-Methyl-D-Aspartate |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Subcellular Fractions |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Syndrome |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gauthier, Julie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Araki, Yoichi |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lin, Da-Ting |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yoshizawa, Yuhki |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Higashi, Kyohei |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Park, A-Reum |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Spiegelman, Dan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dobrzeniecka, Sylvia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Piton, Amélie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tomitori, Hideyuki |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Daoud, Hussein |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Massicotte, Christine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Henrion, Edouard |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Diallo, Ousmane |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shekarabi, Masoud |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Marineau, Claude |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shevell, Michael |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Maranda, Bruno |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mitchell, Grant |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nadeau, Amélie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | D'Anjou, Guy |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vanasse, Michel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Srour, Myriam |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lafrenière, Ronald G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Drapeau, Pierre |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lacaille, Jean Claude |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kim, Eunjoon |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lee, Jae-Ran |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Igarashi, Kazuei |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Huganir, Richard L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rouleau, Guy A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Michaud, Jacques L |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of human genetics |
| Related parts | vol. 88 |
| -- | no. 3 |
| -- | p. 306-16 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ajhg.2011.02.001">https://doi.org/10.1016/j.ajhg.2011.02.001</a> |
| Public note | Available from publisher's website |
No items available.