Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. (Record no. 16418218)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01817 a2200565 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515033052.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200609s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 0002-9297 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1086/506257 |
| 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 | Hoffmann, Katrin |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20060914 |
| 245 00 - TITLE STATEMENT | |
| Title | Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of human genetics |
| Date of publication, distribution, etc. | Aug 2006 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 303-12 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Amino Acid Sequence |
| 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 | Arthrogryposis |
| General subdivision | embryology |
| 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 | Female |
| 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 | Mice |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Molecular Sequence Data |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Myasthenic Syndromes, Congenital |
| General subdivision | embryology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Neuromuscular Junction |
| General subdivision | embryology |
| 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 | Pregnancy |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Protein Subunits |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Receptors, Cholinergic |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Muller, Juliane S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stricker, Sigmar |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Megarbane, Andre |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rajab, Anna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lindner, Tom H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cohen, Monika |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chouery, Eliane |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Adaimy, Lynn |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ghanem, Ismat |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Delague, Valerie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Boltshauser, Eugen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Talim, Beril |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Horvath, Rita |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Robinson, Peter N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lochmüller, Hanns |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hübner, Christoph |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mundlos, Stefan |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of human genetics |
| Related parts | vol. 79 |
| -- | no. 2 |
| -- | p. 303-12 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1086/506257">https://doi.org/10.1086/506257</a> |
| Public note | Available from publisher's website |
No items available.