Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function. (Record no. 27245799)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01694 a2200505 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517155747.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201805s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1098-1004 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/humu.23268 |
| 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 | Zhao, Jin James |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20180510 |
| 245 00 - TITLE STATEMENT | |
| Title | Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human mutation |
| Date of publication, distribution, etc. | 10 2017 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1394-1401 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 | Cerebellar Ataxia |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cerebellum |
| General subdivision | abnormalities |
| 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 | Developmental Disabilities |
| 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 | Flow Cytometry |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Gene Expression |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Glycosylphosphatidylinositols |
| General subdivision | chemistry |
| 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 | 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 | Nervous System Malformations |
| 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 | Phosphotransferases (Alcohol Group Acceptor) |
| General subdivision | chemistry |
| 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 | Siblings |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exome Sequencing |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Halvardson, Jonatan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Knaus, Alexej |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Georgii-Hemming, Patrik |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Baeck, Peter |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Krawitz, Peter M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Thuresson, Ann-Charlotte |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Feuk, Lars |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human mutation |
| Related parts | vol. 38 |
| -- | no. 10 |
| -- | p. 1394-1401 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/humu.23268">https://doi.org/10.1002/humu.23268</a> |
| Public note | Available from publisher's website |
No items available.