Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. (Record no. 19417557)
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|---|---|
| fixed length control field | 02220 a2200685 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515202109.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201002s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1546-1718 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/ng.508 |
| 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 | Auer-Grumbach, Michaela |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20100217 |
| 245 00 - TITLE STATEMENT | |
| Title | Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Nature genetics |
| Date of publication, distribution, etc. | Feb 2010 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 160-4 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 Substitution |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Ankyrin Repeat |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Calcium |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | HeLa Cells |
| 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 | Immunohistochemistry |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Intracellular Space |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Ion Channel Gating |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Models, Molecular |
| 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 | Muscular Atrophy, Spinal |
| General subdivision | complications |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutant Proteins |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Osmosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | TRPV Cation Channels |
| General subdivision | chemistry |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Transfection |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Olschewski, Andrea |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Papić, Lea |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kremer, Hannie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | McEntagart, Meriel E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Uhrig, Sabine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fischer, Carina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fröhlich, Eleonore |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bálint, Zoltán |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tang, Bi |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Strohmaier, Heimo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lochmüller, Hanns |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schlotter-Weigel, Beate |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Senderek, Jan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Krebs, Angelika |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dick, Katherine J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Petty, Richard |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Longman, Cheryl |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Anderson, Neil E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Padberg, George W |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schelhaas, Helenius J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Ravenswaaij-Arts, Conny M A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pieber, Thomas R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Crosby, Andrew H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Guelly, Christian |
| 773 0# - HOST ITEM ENTRY | |
| Title | Nature genetics |
| Related parts | vol. 42 |
| -- | no. 2 |
| -- | p. 160-4 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/ng.508">https://doi.org/10.1038/ng.508</a> |
| Public note | Available from publisher's website |
No items available.