Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation. (Record no. 21458211)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02110 a2200661 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516073135.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201203s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1553-7404 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1371/journal.pgen.1002427 |
| 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 | Lefeber, Dirk J |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20120321 |
| 245 00 - TITLE STATEMENT | |
| Title | Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | PLoS genetics |
| Date of publication, distribution, etc. | Dec 2011 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | e1002427 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 | Adolescent |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cardiomyopathy, Dilated |
| General subdivision | genetics |
| 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 | Child, Preschool |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Dolichol Phosphates |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Dystroglycans |
| General subdivision | metabolism |
| 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 | Gene Expression |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genes, Recessive |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Glycosylation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Haplotypes |
| 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 | Male |
| 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 | Phosphotransferases (Alcohol Group Acceptor) |
| General subdivision | deficiency |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Saccharomyces cerevisiae |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sarcolemma |
| General subdivision | metabolism |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Brouwer, Arjan P M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Morava, Eva |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Riemersma, Moniek |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schuurs-Hoeijmakers, Janneke H M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Absmanner, Birgit |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Verrijp, Kiek |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van den Akker, Willem M R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Huijben, Karin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Steenbergen, Gerry |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Reeuwijk, Jeroen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jozwiak, Adam |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zucker, Nili |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lorber, Avraham |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lammens, Martin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Knopf, Carlos |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Bokhoven, Hans |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Grünewald, Stephanie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lehle, Ludwig |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kapusta, Livia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mandel, Hanna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wevers, Ron A |
| 773 0# - HOST ITEM ENTRY | |
| Title | PLoS genetics |
| Related parts | vol. 7 |
| -- | no. 12 |
| -- | p. e1002427 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1371/journal.pgen.1002427">https://doi.org/10.1371/journal.pgen.1002427</a> |
| Public note | Available from publisher's website |
No items available.