POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG. (Record no. 14755058)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01912 a2200589 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250514182915.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200407s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1526-632X |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1212/01.wnl.0000115386.28769.65 |
| 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 | Kim, D S |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20040719 |
| 245 00 - TITLE STATEMENT | |
| Title | POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Neurology |
| Date of publication, distribution, etc. | Mar 2004 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1009-11 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Abnormalities, Multiple |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Action Potentials |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Brain |
| General subdivision | abnormalities |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Child, Preschool |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Conserved Sequence |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Creatine Kinase |
| General subdivision | blood |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cytoskeletal Proteins |
| General subdivision | deficiency |
| 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 | Dystroglycans |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Electroencephalography |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Eye Abnormalities |
| 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 | Immunoblotting |
| 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 | Japan |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Magnetic Resonance Imaging |
| 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 | Mannosyltransferases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Membrane Glycoproteins |
| General subdivision | deficiency |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Muscular Dystrophies |
| General subdivision | congenital |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Nervous System Malformations |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Syndrome |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hayashi, Y K |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Matsumoto, H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ogawa, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Noguchi, S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Murakami, N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sakuta, R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mochizuki, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Michele, D E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Campbell, K P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nonaka, I |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nishino, I |
| 773 0# - HOST ITEM ENTRY | |
| Title | Neurology |
| Related parts | vol. 62 |
| -- | no. 6 |
| -- | p. 1009-11 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1212/01.wnl.0000115386.28769.65">https://doi.org/10.1212/01.wnl.0000115386.28769.65</a> |
| Public note | Available from publisher's website |
No items available.