Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis. (Record no. 15173700)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01612 a2200469 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250514204910.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200501s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 0960-8966 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.nmd.2004.05.017 |
| 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 | Falco, Michele |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20050131 |
| 245 00 - TITLE STATEMENT | |
| Title | Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Neuromuscular disorders : NMD |
| Date of publication, distribution, etc. | Nov 2004 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 750-3 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adenosine Triphosphatases |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adult |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Calcium-Binding Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Child |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromatography, High Pressure Liquid |
| General subdivision | methods |
| 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 | Exons |
| 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 | 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 | Middle Aged |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation, Missense |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | RNA, Messenger |
| General subdivision | biosynthesis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Reverse Transcriptase Polymerase Chain Reaction |
| General subdivision | methods |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Spastic Paraplegia, Hereditary |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Spastin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Scuderi, Carmela |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Musumeci, Sebastiano |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sturnio, Maurizio |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Neri, Marcella |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bigoni, Stefania |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Caniatti, Luisa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fichera, Marco |
| 773 0# - HOST ITEM ENTRY | |
| Title | Neuromuscular disorders : NMD |
| Related parts | vol. 14 |
| -- | no. 11 |
| -- | p. 750-3 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.nmd.2004.05.017">https://doi.org/10.1016/j.nmd.2004.05.017</a> |
| Public note | Available from publisher's website |
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