A novel nonsense autosomal dominant mutation in the GLRA1 gene causing hyperekplexia. (Record no. 28803118)
[ view plain ]
| 000 -LEADER | |
|---|---|
| fixed length control field | 01235 a2200349 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517234931.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201911s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1435-1463 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1007/s00702-018-1924-y |
| 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 | Milenkovic, Ivan |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20191114 |
| 245 00 - TITLE STATEMENT | |
| Title | A novel nonsense autosomal dominant mutation in the GLRA1 gene causing hyperekplexia. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of neural transmission (Vienna, Austria : 1996) |
| Date of publication, distribution, etc. | 12 2018 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1877-1883 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Codon, Nonsense |
| 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 | Hyperekplexia |
| 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 | Phenotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Receptors, Glycine |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Reflex, Startle |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Young Adult |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zimprich, Alexander |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gencik, Martin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Platho-Elwischger, Kirsten |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Seidel, Stefan |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of neural transmission (Vienna, Austria : 1996) |
| Related parts | vol. 125 |
| -- | no. 12 |
| -- | p. 1877-1883 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1007/s00702-018-1924-y">https://doi.org/10.1007/s00702-018-1924-y</a> |
| Public note | Available from publisher's website |
No items available.