Mutations causing congenital myasthenia reveal principal coupling pathway in the acetylcholine receptor ε-subunit. (Record no. 28011726)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01641 a2200493 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517195502.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201910s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 2379-3708 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1172/jci.insight.97826 |
| 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 | Shen, Xin-Ming |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20191028 |
| 245 00 - TITLE STATEMENT | |
| Title | Mutations causing congenital myasthenia reveal principal coupling pathway in the acetylcholine receptor ε-subunit. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | JCI insight |
| Date of publication, distribution, etc. | 01 2018 |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adult |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Arginine |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Consanguinity |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Mutational Analysis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Evoked Potentials, Motor |
| General subdivision | physiology |
| 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 | Glutamic Acid |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | HEK293 Cells |
| 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 | Muscle, Skeletal |
| General subdivision | pathology |
| 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 | Myasthenic Syndromes, Congenital |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Patch-Clamp Techniques |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Receptors, Nicotinic |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Recombinant Proteins |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brengman, Joan M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shen, Shelley |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Durmus, Hacer |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Preethish-Kumar, Veeramani |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yuceyar, Nur |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vengalil, Seena |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nalini, Atchayaram |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Deymeer, Feza |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sine, Steven M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Engel, Andrew G |
| 773 0# - HOST ITEM ENTRY | |
| Title | JCI insight |
| Related parts | vol. 3 |
| -- | no. 2 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1172/jci.insight.97826">https://doi.org/10.1172/jci.insight.97826</a> |
| Public note | Available from publisher's website |
No items available.