Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. (Record no. 17943283)
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| fixed length control field | 02336 a2200733 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515120321.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200808s 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.20746 |
| 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 | Revencu, Nicole |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20080828 |
| 245 00 - TITLE STATEMENT | |
| Title | Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human mutation |
| Date of publication, distribution, etc. | Jul 2008 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 959-65 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 | Arteriovenous Malformations |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Family |
| 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 | Immunoglobulin Variable Region |
| 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 | Phenotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Recombinant Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Single-Chain Antibodies |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Syndrome |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Vascular Malformations |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Vein of Galen Malformations |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | p120 GTPase Activating Protein |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Boon, Laurence M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mulliken, John B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Enjolras, Odile |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cordisco, Maria Rosa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Burrows, Patricia E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Clapuyt, Philippe |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hammer, Frank |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dubois, Josée |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Baselga, Eulalia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brancati, Francesco |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Carder, Robin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Quintal, José Miguel Ceballos |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dallapiccola, Bruno |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fischer, Gayle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Frieden, Ilona J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Garzon, Maria |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Harper, John |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Johnson-Patel, Jennifer |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Labrèze, Christine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Martorell, Loreto |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Paltiel, Harriet J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pohl, Annette |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Prendiville, Julie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Quere, Isabelle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Siegel, Dawn H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Valente, Enza Maria |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Van Hagen, Annet |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Van Hest, Liselot |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vaux, Keith K |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vicente, Asuncion |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Weibel, Lisa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chitayat, David |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vikkula, Miikka |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human mutation |
| Related parts | vol. 29 |
| -- | no. 7 |
| -- | p. 959-65 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/humu.20746">https://doi.org/10.1002/humu.20746</a> |
| Public note | Available from publisher's website |
No items available.