Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene. (Record no. 14952694)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01013 a2200289 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250514193626.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200412s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1526-632X |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1212/wnl.63.1.194 |
| 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 | Kamholz, John |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20041221 |
| 245 00 - TITLE STATEMENT | |
| Title | Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Neurology |
| Date of publication, distribution, etc. | Jul 2004 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 194; author reply 194 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Comment; Letter |
| 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 | Amino Acid Substitution |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Charcot-Marie-Tooth Disease |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Codon |
| General subdivision | genetics |
| 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 | Mutation, Missense |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Myelin P0 Protein |
| General subdivision | chemistry |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shy, Michael E |
| 773 0# - HOST ITEM ENTRY | |
| Title | Neurology |
| Related parts | vol. 63 |
| -- | no. 1 |
| -- | p. 194; author reply 194 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1212/wnl.63.1.194">https://doi.org/10.1212/wnl.63.1.194</a> |
| Public note | Available from publisher's website |
No items available.