Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency. (Record no. 25940813)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02237 a2200733 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517092106.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201712s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1098-1004 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/humu.23001 |
| 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 | Saunier, Chloé |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20171215 |
| 245 00 - TITLE STATEMENT | |
| Title | Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human mutation |
| Date of publication, distribution, etc. | 08 2016 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 755-64 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Acetylation |
| 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 | Genes, X-Linked |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Association Studies |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Predisposition to Disease |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Germ-Line Mutation |
| 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 | Male |
| 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 | Mosaicism |
| 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 | N-Terminal Acetyltransferase A |
| General subdivision | chemistry |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | N-Terminal Acetyltransferase E |
| General subdivision | chemistry |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pedigree |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Støve, Svein Isungset |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Popp, Bernt |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gérard, Bénédicte |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Blenski, Marina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | AhMew, Nicholas |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Bie, Charlotte |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Goldenberg, Paula |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Isidor, Bertrand |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Keren, Boris |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Leheup, Bruno |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lampert, Laetitia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mignot, Cyril |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tezcan, Kamer |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mancini, Grazia M S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nava, Caroline |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wasserstein, Melissa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bruel, Ange-Line |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Thevenon, Julien |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Masurel, Alice |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Duffourd, Yannis |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kuentz, Paul |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Huet, Frédéric |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rivière, Jean-Baptiste |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Slegtenhorst, Marjon |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Faivre, Laurence |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Piton, Amélie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Reis, André |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Arnesen, Thomas |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Thauvin-Robinet, Christel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zweier, Christiane |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human mutation |
| Related parts | vol. 37 |
| -- | no. 8 |
| -- | p. 755-64 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/humu.23001">https://doi.org/10.1002/humu.23001</a> |
| Public note | Available from publisher's website |
No items available.