POLR3B-associated leukodystrophy: clinical, neuroimaging and molecular-genetic analyses in four patients: clinical heterogeneity and novel mutations in POLR3B gene. (Record no. 30167211)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01363 a2200373 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250518062918.0 |
| 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 | 0028-3843 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.5603/PJNNS.a2019.0042 |
| 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 | Kulhánek, Jan |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20191112 |
| 245 00 - TITLE STATEMENT | |
| Title | POLR3B-associated leukodystrophy: clinical, neuroimaging and molecular-genetic analyses in four patients: clinical heterogeneity and novel mutations in POLR3B gene. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Neurologia i neurochirurgia polska |
| Date of publication, distribution, etc. | 2019 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 369-376 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 | Cerebellar Diseases |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Hereditary Central Nervous System Demyelinating Diseases |
| 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 | Mutation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Neuroimaging |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | RNA Polymerase III |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brožová, Klára |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hansíková, Hana |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vondráčková, Alžběta |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stránecký, Viktor |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Šenkyřík, Jan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kmoch, Stanislav |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zeman, Jiří |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Honzík, Tomáš |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tesařová, Markéta |
| 773 0# - HOST ITEM ENTRY | |
| Title | Neurologia i neurochirurgia polska |
| Related parts | vol. 53 |
| -- | no. 5 |
| -- | p. 369-376 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.5603/PJNNS.a2019.0042">https://doi.org/10.5603/PJNNS.a2019.0042</a> |
| Public note | Available from publisher's website |
No items available.