CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. (Record no. 24542382)
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| fixed length control field | 02831 a2200829 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517012817.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201504s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1537-6605 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.ajhg.2014.12.013 |
| 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 | Wortmann, Saskia B |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20150409 |
| 245 00 - TITLE STATEMENT | |
| Title | CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of human genetics |
| Date of publication, distribution, etc. | Feb 2015 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 245-57 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Abnormalities, Multiple |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adenosine Triphosphatases |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Animals |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Atrophy |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Base Sequence |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Brain |
| General subdivision | pathology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cataract |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Endopeptidase Clp |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exome |
| General subdivision | genetics |
| 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 | Intellectual Disability |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Metabolism, Inborn Errors |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Molecular Sequence Data |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Movement Disorders |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Neutropenia |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Polymorphism, Single Nucleotide |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sarcoplasmic Reticulum Calcium-Transporting ATPases |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Analysis, DNA |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Zebrafish |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ziętkiewicz, Szymon |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kousi, Maria |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Szklarczyk, Radek |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Haack, Tobias B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gersting, Søren W |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Muntau, Ania C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rakovic, Aleksandar |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Renkema, G Herma |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rodenburg, Richard J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Strom, Tim M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Meitinger, Thomas |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rubio-Gozalbo, M Estela |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chrusciel, Elzbieta |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Distelmaier, Felix |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Golzio, Christelle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jansen, Joop H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Karnebeek, Clara |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lillquist, Yolanda |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lücke, Thomas |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Õunap, Katrin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zordania, Riina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yaplito-Lee, Joy |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Bokhoven, Hans |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Spelbrink, Johannes N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vaz, Frédéric M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pras-Raves, Mia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ploski, Rafal |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pronicka, Ewa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Klein, Christine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Willemsen, Michel A A P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Brouwer, Arjan P M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Prokisch, Holger |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Katsanis, Nicholas |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wevers, Ron A |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of human genetics |
| Related parts | vol. 96 |
| -- | no. 2 |
| -- | p. 245-57 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ajhg.2014.12.013">https://doi.org/10.1016/j.ajhg.2014.12.013</a> |
| Public note | Available from publisher's website |
No items available.