RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. (Record no. 23091033)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02997 a2200985 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516171233.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201406s 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.22431 |
| 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 | 20140616 |
| 245 00 - TITLE STATEMENT | |
| Title | RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human mutation |
| Date of publication, distribution, etc. | Dec 2013 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1632-41 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 | Amino Acid Substitution |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Arteriovenous Malformations |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Capillaries |
| General subdivision | abnormalities |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Mutational Analysis |
| 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 | Gene Order |
| 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 | Humans |
| 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 | 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 | Port-Wine Stain |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Prospective Studies |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Retrospective Studies |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | p120 GTPase Activating Protein |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Boon, Laurence M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mendola, Antonella |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cordisco, Maria Rosa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dubois, Josée |
| 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 | Amor, David J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Irvine, Alan D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Baselga, Eulalia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dompmartin, Anne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Syed, Samira |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Martin-Santiago, Ana |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ades, Lesley |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Collins, Felicity |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Smith, Janine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sandaradura, Sarah |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Barrio, Victoria R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Burrows, Patricia E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Blei, Francine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cozzolino, Mariarosaria |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brunetti-Pierri, Nicola |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vicente, Asuncion |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Abramowicz, Marc |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Désir, Julie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vilain, Catheline |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chung, Wendy K |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wilson, Ashley |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gardiner, Carol A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dwight, Yim |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lord, David J E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fishman, Leona |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cytrynbaum, Cheryl |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chamlin, Sarah |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ghali, Fred |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gilaberte, Yolanda |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Joss, Shelagh |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Boente, Maria Del C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Léauté-Labrèze, Christine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Delrue, Marie-Ange |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bayliss, Susan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Martorell, Loreto |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | González-Enseñat, Maria-Antonia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mazereeuw-Hautier, Juliette |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | O'Donnell, Brid |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bessis, Didier |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pyeritz, Reed E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Salhi, Aicha |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tan, Oon T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wargon, Orli |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mulliken, John B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vikkula, Miikka |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human mutation |
| Related parts | vol. 34 |
| -- | no. 12 |
| -- | p. 1632-41 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/humu.22431">https://doi.org/10.1002/humu.22431</a> |
| Public note | Available from publisher's website |
No items available.