Phenotype of a patient with recessive centronuclear myopathy and a novel BIN1 mutation. (Record no. 19513583)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01342 a2200409 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515205319.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201003s 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.0b013e3181cef7f9 |
| 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 | Claeys, K G |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20100305 |
| 245 00 - TITLE STATEMENT | |
| Title | Phenotype of a patient with recessive centronuclear myopathy and a novel BIN1 mutation. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Neurology |
| Date of publication, distribution, etc. | Feb 2010 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 519-21 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adaptor Proteins, Signal Transducing |
| 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 | 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 | Myopathies, Structural, Congenital |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Nuclear Proteins |
| General subdivision | genetics |
| 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 | Tumor Suppressor Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Young Adult |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Maisonobe, T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Böhm, J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Laporte, J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hezode, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Romero, N B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brochier, G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bitoun, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Carlier, R Y |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stojkovic, T |
| 773 0# - HOST ITEM ENTRY | |
| Title | Neurology |
| Related parts | vol. 74 |
| -- | no. 6 |
| -- | p. 519-21 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1212/WNL.0b013e3181cef7f9">https://doi.org/10.1212/WNL.0b013e3181cef7f9</a> |
| Public note | Available from publisher's website |
No items available.