A novel founder mutation in the MFN2 gene associated with variable Charcot-Marie-Tooth type 2 phenotype in two families from Southern Italy. (Record no. 20941092)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 00946 a2200265 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516043059.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201111s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1757-790X |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1136/bcr.08.2008.0652 |
| 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 | Muglia, Maria |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20111110 |
| 245 00 - TITLE STATEMENT | |
| Title | A novel founder mutation in the MFN2 gene associated with variable Charcot-Marie-Tooth type 2 phenotype in two families from Southern Italy. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | BMJ case reports |
| Date of publication, distribution, etc. | 2009 |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vazza, Giovanni |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Patitucci, Alessandra |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Milani, Micaela |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pareyson, Davide |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Taroni, Franco |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Quattrone, Aldo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mostacciuolo, Maria Luisa |
| 773 0# - HOST ITEM ENTRY | |
| Title | BMJ case reports |
| Related parts | vol. 2009 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1136/bcr.08.2008.0652">https://doi.org/10.1136/bcr.08.2008.0652</a> |
| Public note | Available from publisher's website |
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