Mutation in FAM134B causing severe hereditary sensory neuropathy. (Record no. 20408030)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01323 a2200361 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516013752.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201202s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1468-330X |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1136/jnnp.2010.228965 |
| 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 | Murphy, Sinéad M |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20120202 |
| 245 00 - TITLE STATEMENT | |
| Title | Mutation in FAM134B causing severe hereditary sensory neuropathy. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of neurology, neurosurgery, and psychiatry |
| Date of publication, distribution, etc. | Jan 2012 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 119-20 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't |
| 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 | Codon, Nonsense |
| General subdivision | genetics |
| 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 | Hereditary Sensory and Autonomic Neuropathies |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Homozygote |
| 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 | Intracellular Signaling Peptides and Proteins |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Membrane Proteins |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Neoplasm Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Neuropsychological Tests |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Davidson, Gabrielle L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brandner, Sebastian |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Houlden, Henry |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Reilly, Mary M |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of neurology, neurosurgery, and psychiatry |
| Related parts | vol. 83 |
| -- | no. 1 |
| -- | p. 119-20 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1136/jnnp.2010.228965">https://doi.org/10.1136/jnnp.2010.228965</a> |
| Public note | Available from publisher's website |
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