Variable clinical phenotype in two siblings with Aicardi-Goutières syndrome type 6 and a novel mutation in the ADAR gene. (Record no. 27870657)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01636 a2200433 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517191040.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201807s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1532-2130 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.ejpn.2017.11.003 |
| 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 | Schmelzer, Lisa |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20180702 |
| 245 00 - TITLE STATEMENT | |
| Title | Variable clinical phenotype in two siblings with Aicardi-Goutières syndrome type 6 and a novel mutation in the ADAR gene. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society |
| Date of publication, distribution, etc. | Jan 2018 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 186-189 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adenosine Deaminase |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adolescent |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Autoimmune Diseases of the Nervous System |
| General subdivision | diagnosis |
| 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 | Female |
| 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 | Mutation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Nervous System Malformations |
| General subdivision | diagnosis |
| 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 | RNA-Binding Proteins |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Smitka, Martin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wolf, Christine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lucas, Nadja |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tüngler, Victoria |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hahn, Gabriele |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tzschach, Andreas |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Di Donato, Nataliya |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lee-Kirsch, Min Ae |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | von der Hagen, Maja |
| 773 0# - HOST ITEM ENTRY | |
| Title | European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society |
| Related parts | vol. 22 |
| -- | no. 1 |
| -- | p. 186-189 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ejpn.2017.11.003">https://doi.org/10.1016/j.ejpn.2017.11.003</a> |
| Public note | Available from publisher's website |
No items available.