Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome. (Record no. 30160897)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02064 a2200637 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250518062659.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 202001s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1546-1718 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/s41588-019-0498-4 |
| 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 | Vabres, Pierre |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20200122 |
| 245 00 - TITLE STATEMENT | |
| Title | Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Nature genetics |
| Date of publication, distribution, etc. | 10 2019 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1438-1441 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 | Humans |
| 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 |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Neurocutaneous Syndromes |
| General subdivision | etiology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Skin Pigmentation |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Zygote |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | rhoA GTP-Binding Protein |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sorlin, Arthur |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kholmanskikh, Stanislav S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Demeer, Bénédicte |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | St-Onge, Judith |
| 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 | Courcet, Jean-Benoît |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Carmignac, Virginie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Garret, Philippine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bessis, Didier |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Boute, Odile |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bron, Alain |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Captier, Guillaume |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Carmi, Esther |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Devauchelle, Bernard |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Geneviève, David |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gondry-Jouet, Catherine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Guibaud, Laurent |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lafon, Arnaud |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mathieu-Dramard, Michèle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Thevenon, Julien |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dobyns, William B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bernard, Geneviève |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Polubothu, Satyamaanasa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Faravelli, Francesca |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kinsler, Veronica A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Thauvin, Christel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Faivre, Laurence |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ross, M Elizabeth |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rivière, Jean-Baptiste |
| 773 0# - HOST ITEM ENTRY | |
| Title | Nature genetics |
| Related parts | vol. 51 |
| -- | no. 10 |
| -- | p. 1438-1441 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/s41588-019-0498-4">https://doi.org/10.1038/s41588-019-0498-4</a> |
| Public note | Available from publisher's website |
No items available.