Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum. (Record no. 18641196)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01860 a2200601 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515155914.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200909s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1468-6244 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1136/jmg.2008.063321 |
| 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 | Crimella, C |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20090925 |
| 245 00 - TITLE STATEMENT | |
| Title | Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of medical genetics |
| Date of publication, distribution, etc. | May 2009 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 345-51 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Letter; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Agenesis of Corpus Callosum |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Amino Acid Sequence |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Base Sequence |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Mutational Analysis |
| General subdivision | methods |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA, Intergenic |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Family Health |
| 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 Frequency |
| 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 | Molecular Sequence Data |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pedigree |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Point Mutation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Deletion |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Homology, Amino Acid |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Spastic Paraplegia, Hereditary |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Arnoldi, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Crippa, F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mostacciuolo, M L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Boaretto, F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sironi, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | D'Angelo, M Grazia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Manzoni, S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Piccinini, L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Turconi, A C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Toscano, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Musumeci, O |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Benedetti, S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fazio, R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bresolin, N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Daga, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Martinuzzi, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bassi, M T |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of medical genetics |
| Related parts | vol. 46 |
| -- | no. 5 |
| -- | p. 345-51 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1136/jmg.2008.063321">https://doi.org/10.1136/jmg.2008.063321</a> |
| Public note | Available from publisher's website |
No items available.