Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy. (Record no. 19928791)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01307 a2200397 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515230855.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201011s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1872-8278 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.mito.2010.05.008 |
| 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 | Gerards, Mike |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20101123 |
| 245 00 - TITLE STATEMENT | |
| Title | Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Mitochondrion |
| Date of publication, distribution, etc. | Aug 2010 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 510-5 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Atrophy |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cerebellar Ataxia |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cerebellum |
| General subdivision | pathology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Codon, Nonsense |
| 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 | 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 | Mitochondrial Proteins |
| General subdivision | deficiency |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | RNA Stability |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van den Bosch, Bianca |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Calis, Chantal |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schoonderwoerd, Kees |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Engelen, Klaartje |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tijssen, Marina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Coo, René |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van der Kooi, Anneke |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Smeets, Hubert |
| 773 0# - HOST ITEM ENTRY | |
| Title | Mitochondrion |
| Related parts | vol. 10 |
| -- | no. 5 |
| -- | p. 510-5 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.mito.2010.05.008">https://doi.org/10.1016/j.mito.2010.05.008</a> |
| Public note | Available from publisher's website |
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