The p.R482W substitution in A-type lamins deregulates SREBP1 activity in Dunnigan-type familial partial lipodystrophy. (Record no. 24473222)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01599 a2200481 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517010519.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201601s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1460-2083 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1093/hmg/ddu728 |
| 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 | Vadrot, Nathalie |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20160113 |
| 245 00 - TITLE STATEMENT | |
| Title | The p.R482W substitution in A-type lamins deregulates SREBP1 activity in Dunnigan-type familial partial lipodystrophy. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human molecular genetics |
| Date of publication, distribution, etc. | Apr 2015 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 2096-109 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adult |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Amino Acid Substitution |
| 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 | Lamin Type A |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Lipodystrophy, Familial Partial |
| General subdivision | genetics |
| 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 | Middle Aged |
| 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 | Protein Binding |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sterol Regulatory Element Binding Protein 1 |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Young Adult |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Duband-Goulet, Isabelle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cabet, Eva |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Attanda, Wikayatou |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Barateau, Alice |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vicart, Patrick |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gerbal, Fabien |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Briand, Nolwenn |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vigouroux, Corinne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Oldenburg, Anja R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lund, Eivind G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Collas, Philippe |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Buendia, Brigitte |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human molecular genetics |
| Related parts | vol. 24 |
| -- | no. 7 |
| -- | p. 2096-109 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1093/hmg/ddu728">https://doi.org/10.1093/hmg/ddu728</a> |
| Public note | Available from publisher's website |
No items available.