A novel point mutation in PMP22 gene in an Italian family with hereditary neuropathy with liability to pressure palsies. (Record no. 17238346)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01748 a2200529 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515080737.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200802s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 0022-510X |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.jns.2007.05.034 |
| 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 | Muglia, Maria |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20080214 |
| 245 00 - TITLE STATEMENT | |
| Title | A novel point mutation in PMP22 gene in an Italian family with hereditary neuropathy with liability to pressure palsies. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of the neurological sciences |
| Date of publication, distribution, etc. | Dec 2007 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 194-7 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adolescent |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosomes, Human, Pair 17 |
| 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 |
| 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 | Hereditary Sensory and Motor Neuropathy |
| General subdivision | complications |
| 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 | Italy |
| 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 | Myelin Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Neural Conduction |
| General subdivision | physiology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Paralysis |
| General subdivision | complications |
| 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 | Pressure |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Patitucci, Alessandra |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rizzi, Romana |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ungaro, Carmine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Conforti, Francesca Luisa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gabriele, Anna Lia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Magariello, Angela |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mazzei, Rosalucia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Motti, Luisa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sabadini, Rossella |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sprovieri, Teresa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Marcello, Norina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Quattrone, Aldo |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of the neurological sciences |
| Related parts | vol. 263 |
| -- | no. 1-2 |
| -- | p. 194-7 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.jns.2007.05.034">https://doi.org/10.1016/j.jns.2007.05.034</a> |
| Public note | Available from publisher's website |
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