A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT. (Record no. 22716641)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01841 a2200553 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516150002.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201402s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1468-6244 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1136/jmedgenet-2013-101654 |
| 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 | Kvarnung, Malin |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20140218 |
| 245 00 - TITLE STATEMENT | |
| Title | A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of medical genetics |
| Date of publication, distribution, etc. | Aug 2013 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 521-8 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 | Animals |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Animals, Genetically Modified |
| 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 | Consanguinity |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Embryo, Nonmammalian |
| General subdivision | metabolism |
| 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 | Flow Cytometry |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Glycosylphosphatidylinositols |
| General subdivision | deficiency |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Hemoglobinuria, Paroxysmal |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Homozygote |
| 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 | Muscle Hypotonia |
| General subdivision | genetics |
| 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 | Pedigree |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Seizures |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Syndrome |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Zebrafish |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nilsson, Daniel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lindstrand, Anna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Korenke, G Christoph |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chiang, Samuel C C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Blennow, Elisabeth |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bergmann, Markus |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stödberg, Tommy |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mäkitie, Outi |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Anderlid, Britt-Marie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bryceson, Yenan T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nordenskjöld, Magnus |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nordgren, Ann |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of medical genetics |
| Related parts | vol. 50 |
| -- | no. 8 |
| -- | p. 521-8 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1136/jmedgenet-2013-101654">https://doi.org/10.1136/jmedgenet-2013-101654</a> |
| Public note | Available from publisher's website |
No items available.