Novel de novo SHANK3 mutation in autistic patients. (Record no. 18096973)
[ view plain ]
| 000 -LEADER | |
|---|---|
| fixed length control field | 02154 a2200613 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515125724.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200905s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1552-485X |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/ajmg.b.30822 |
| 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 | Gauthier, Julie |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20090519 |
| 245 00 - TITLE STATEMENT | |
| Title | Novel de novo SHANK3 mutation in autistic patients. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics |
| Date of publication, distribution, etc. | Apr 2009 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 421-4 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 Sequence |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Amino Acid Substitution |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Autistic Disorder |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Carrier Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Case-Control Studies |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cohort Studies |
| 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 | Genetic Markers |
| 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 | 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 | Microsatellite Repeats |
| 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 | Mutation |
| 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 | Nerve Tissue Proteins |
| 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 | Proline |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | RNA Splice Sites |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Deletion |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Homology, Amino Acid |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Spiegelman, Dan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Piton, Amélie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lafrenière, Ronald G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Laurent, Sandra |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | St-Onge, Judith |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lapointe, Line |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hamdan, Fadi F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cossette, Patrick |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mottron, Laurent |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fombonne, Eric |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Joober, Ridha |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Marineau, Claude |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Drapeau, Pierre |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rouleau, Guy A |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics |
| Related parts | vol. 150B |
| -- | no. 3 |
| -- | p. 421-4 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/ajmg.b.30822">https://doi.org/10.1002/ajmg.b.30822</a> |
| Public note | Available from publisher's website |
No items available.