Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. (Record no. 25153639)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02510 a2200805 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517045037.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201606s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 2211-1247 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.celrep.2015.07.023 |
| 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 | Gonzaga-Jauregui, Claudia |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20160620 |
| 245 00 - TITLE STATEMENT | |
| Title | Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Cell reports |
| Date of publication, distribution, etc. | Aug 2015 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1169-83 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Animals |
| 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 | Exome |
| 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 | Genetic Load |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Variation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | HSP40 Heat-Shock Proteins |
| 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 | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Myelin P2 Protein |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pedigree |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Penetrance |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Peripheral Nervous System Diseases |
| 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 | Serine C-Palmitoyltransferase |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Suppression, Genetic |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Zebrafish |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Harel, Tamar |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gambin, Tomasz |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kousi, Maria |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Griffin, Laurie B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Francescatto, Ludmila |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ozes, Burcak |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Karaca, Ender |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jhangiani, Shalini N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bainbridge, Matthew N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lawson, Kim S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pehlivan, Davut |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Okamoto, Yuji |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Withers, Marjorie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mancias, Pedro |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Slavotinek, Anne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Reitnauer, Pamela J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Goksungur, Meryem T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shy, Michael |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Crawford, Thomas O |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Koenig, Michel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Willer, Jason |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Flores, Brittany N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pediaditrakis, Igor |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Us, Onder |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wiszniewski, Wojciech |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Parman, Yesim |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Antonellis, Anthony |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Muzny, Donna M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Katsanis, Nicholas |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Battaloglu, Esra |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Boerwinkle, Eric |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gibbs, Richard A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lupski, James R |
| 773 0# - HOST ITEM ENTRY | |
| Title | Cell reports |
| Related parts | vol. 12 |
| -- | no. 7 |
| -- | p. 1169-83 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.celrep.2015.07.023">https://doi.org/10.1016/j.celrep.2015.07.023</a> |
| Public note | Available from publisher's website |
No items available.