Whole genome sequencing reveals a de novo SHANK3 mutation in familial autism spectrum disorder. (Record no. 24589883)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01704 a2200553 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517014320.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201601s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1932-6203 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1371/journal.pone.0116358 |
| 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 | Nemirovsky, Sergio I |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20160112 |
| 245 00 - TITLE STATEMENT | |
| Title | Whole genome sequencing reveals a de novo SHANK3 mutation in familial autism spectrum disorder. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | PloS one |
| Date of publication, distribution, etc. | 2015 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | e0116358 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 | Autism Spectrum Disorder |
| 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 | 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 | 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 | Genomics |
| 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 | Mosaicism |
| 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 | Nerve Tissue Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pedigree |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Siblings |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Córdoba, Marta |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zaiat, Jonathan J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Completa, Sabrina P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vega, Patricia A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | González-Morón, Dolores |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Medina, Nancy M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fabbro, Mónica |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Romero, Soledad |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brun, Bianca |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Revale, Santiago |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ogara, María Florencia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pecci, Adali |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Marti, Marcelo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vazquez, Martin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Turjanski, Adrián |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kauffman, Marcelo A |
| 773 0# - HOST ITEM ENTRY | |
| Title | PloS one |
| Related parts | vol. 10 |
| -- | no. 2 |
| -- | p. e0116358 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1371/journal.pone.0116358">https://doi.org/10.1371/journal.pone.0116358</a> |
| Public note | Available from publisher's website |
No items available.