Exome sequencing identifies a CHKB mutation in Spanish patient with megaconial congenital muscular dystrophy and mtDNA depletion. (Record no. 23983324)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01632 a2200397 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516222247.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201507s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1532-2130 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.ejpn.2014.06.005 |
| 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 | Castro-Gago, Manuel |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20150710 |
| 245 00 - TITLE STATEMENT | |
| Title | Exome sequencing identifies a CHKB mutation in Spanish patient with megaconial congenital muscular dystrophy and mtDNA depletion. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society |
| Date of publication, distribution, etc. | Nov 2014 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 796-800 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 | Child, Preschool |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Choline Kinase |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA, Mitochondrial |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exome |
| 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 | Metabolism, Inborn Errors |
| General subdivision | complications |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mitochondrial Myopathies |
| General subdivision | complications |
| 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 | Spain |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dacruz-Alvarez, David |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pintos-Martínez, Elena |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Beiras-Iglesias, Andrés |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Delmiro, Aitor |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Arenas, Joaquín |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Martín, Miguel Ángel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Martínez-Azorín, Francisco |
| 773 0# - HOST ITEM ENTRY | |
| Title | European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society |
| Related parts | vol. 18 |
| -- | no. 6 |
| -- | p. 796-800 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ejpn.2014.06.005">https://doi.org/10.1016/j.ejpn.2014.06.005</a> |
| Public note | Available from publisher's website |
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