Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors. (Record no. 15511124)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01984 a2200601 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250514224245.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200511s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 0964-6906 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1093/hmg/ddi159 |
| 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 | Navarro, Claire L |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20051128 |
| 245 00 - TITLE STATEMENT | |
| Title | Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human molecular genetics |
| Date of publication, distribution, etc. | Jun 2005 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1503-13 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 | Abnormalities, Multiple |
| 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 | Codon, Terminator |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Primers |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genes, Recessive |
| 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 | Immunohistochemistry |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Infant, Newborn |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Lamin Type A |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Lipoproteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Membrane Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Metalloendopeptidases |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Metalloproteases |
| General subdivision | genetics |
| 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 | Nuclear Proteins |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Polymerase Chain Reaction |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Protein Precursors |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Skin Diseases |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cadiñanos, Juan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | De Sandre-Giovannoli, Annachiara |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bernard, Rafaëlle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Courrier, Sébastien |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Boccaccio, Irène |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Boyer, Amandine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kleijer, Wim J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wagner, Anja |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Giuliano, Fabienne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Beemer, Frits A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Freije, Jose M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cau, Pierre |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hennekam, Raoul C M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | López-Otín, Carlos |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Badens, Catherine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lévy, Nicolas |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human molecular genetics |
| Related parts | vol. 14 |
| -- | no. 11 |
| -- | p. 1503-13 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1093/hmg/ddi159">https://doi.org/10.1093/hmg/ddi159</a> |
| Public note | Available from publisher's website |
No items available.