The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level. (Record no. 18016434)
[ view plain ]
| 000 -LEADER | |
|---|---|
| fixed length control field | 02118 a2200625 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515122848.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200807s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1432-1203 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1007/s00439-008-0521-9 |
| 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 | Pedersen, Christina B |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20080730 |
| 245 00 - TITLE STATEMENT | |
| Title | The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human genetics |
| Date of publication, distribution, etc. | Aug 2008 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 43-56 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't |
| 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 | Butyryl-CoA Dehydrogenase |
| General subdivision | chemistry |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Dimerization |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Enzyme Activation |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Gene Frequency |
| 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 | Malonates |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Metabolism, Inborn Errors |
| General subdivision | enzymology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mice |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mice, Inbred BALB C |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mice, Knockout |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Models, Molecular |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation, Missense |
| General subdivision | physiology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Polymorphism, Single Nucleotide |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Protein Binding |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Protein Folding |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Structure-Activity Relationship |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kølvraa, Steen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kølvraa, Agnete |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stenbroen, Vibeke |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kjeldsen, Margrethe |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ensenauer, Regina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tein, Ingrid |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Matern, Dietrich |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rinaldo, Piero |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vianey-Saban, Christine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ribes, Antonia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lehnert, Willy |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Christensen, Ernst |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Corydon, Thomas J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Andresen, Brage S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vang, Søren |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bolund, Lars |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vockley, Jerry |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bross, Peter |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gregersen, Niels |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human genetics |
| Related parts | vol. 124 |
| -- | no. 1 |
| -- | p. 43-56 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1007/s00439-008-0521-9">https://doi.org/10.1007/s00439-008-0521-9</a> |
| Public note | Available from publisher's website |
No items available.