High-throughput sequencing revealed a novel SETX mutation in a Hungarian patient with amyotrophic lateral sclerosis. (Record no. 27085164)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01569 a2200481 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517150900.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201704s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 2162-3279 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/brb3.669 |
| 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 | Tripolszki, Kornélia |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20170424 |
| 245 00 - TITLE STATEMENT | |
| Title | High-throughput sequencing revealed a novel SETX mutation in a Hungarian patient with amyotrophic lateral sclerosis. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Brain and behavior |
| Date of publication, distribution, etc. | 04 2017 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | e00669 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 | Aged |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Amyotrophic Lateral Sclerosis |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | C9orf72 Protein |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Helicases |
| 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 | Heterozygote |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | High-Throughput Nucleotide Sequencing |
| 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 | Multifunctional Enzymes |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation, Missense |
| 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 | Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | RNA Helicases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | RNA-Binding Protein FUS |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Török, Dóra |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Goudenège, David |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Farkas, Katalin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sulák, Adrienn |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Török, Nóra |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Engelhardt, József I |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Klivényi, Péter |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Procaccio, Vincent |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nagy, Nikoletta |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Széll, Márta |
| 773 0# - HOST ITEM ENTRY | |
| Title | Brain and behavior |
| Related parts | vol. 7 |
| -- | no. 4 |
| -- | p. e00669 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/brb3.669">https://doi.org/10.1002/brb3.669</a> |
| Public note | Available from publisher's website |
No items available.