Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity. (Record no. 18292236)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02058 a2200601 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515140308.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200811s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1531-8249 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/ana.21439 |
| 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 | Pace, Rishika A |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20081113 |
| 245 00 - TITLE STATEMENT | |
| Title | Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Annals of neurology |
| Date of publication, distribution, etc. | Sep 2008 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 294-303 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 | Amino Acid Sequence |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cells, Cultured |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Collagen Diseases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Collagen Type VI |
| General subdivision | biosynthesis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Connective Tissue |
| General subdivision | metabolism |
| 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 | Disease Progression |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Extracellular Matrix |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Fibroblasts |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Predisposition to Disease |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Testing |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Glycine |
| 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 | Microscopy, Electron, Transmission |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Muscle, Skeletal |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Muscular Dystrophies |
| General subdivision | genetics |
| 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 | Protein Structure, Tertiary |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | RNA, Messenger |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Peat, Rachel A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Baker, Naomi L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zamurs, Laura |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mörgelin, Matthias |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Irving, Melita |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Adams, Naomi E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bateman, John F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mowat, David |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Smith, Nicholas J C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lamont, Phillipa J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Moore, Steven A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mathews, Katherine D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | North, Kathryn N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lamandé, Shireen R |
| 773 0# - HOST ITEM ENTRY | |
| Title | Annals of neurology |
| Related parts | vol. 64 |
| -- | no. 3 |
| -- | p. 294-303 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/ana.21439">https://doi.org/10.1002/ana.21439</a> |
| Public note | Available from publisher's website |
No items available.