ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder. (Record no. 24487712)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01996 a2200637 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517011020.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201603s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1468-6244 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1136/jmedgenet-2014-102592 |
| 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 | Al-Hassnan, Zuhair N |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20160301 |
| 245 00 - TITLE STATEMENT | |
| Title | ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of medical genetics |
| Date of publication, distribution, etc. | Mar 2015 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 186-94 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 | Adult |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Alexander Disease |
| General subdivision | genetics |
| 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 | 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 | Female |
| 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 | Infant |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Iron-Sulfur Proteins |
| General subdivision | genetics |
| 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 | Middle Aged |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mitochondrial Diseases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation, Missense |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Neurodegenerative Diseases |
| General subdivision | genetics |
| 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 | Sequence Analysis, DNA |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | White Matter |
| General subdivision | abnormalities |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Al-Dosary, Mazhor |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Alfadhel, Majid |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Faqeih, Eissa A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Alsagob, Maysoon |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kenana, Rosan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Almass, Rawan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Al-Harazi, Olfat S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Al-Hindi, Hindi |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Malibari, Omhani I |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Almutari, Faten B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tulbah, Sahar |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Alhadeq, Faten |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Al-Sheddi, Tarfa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Alamro, Rana |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | AlAsmari, Ali |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Almuntashri, Makki |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Alshaalan, Hesham |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Al-Mohanna, Futwan A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Colak, Dilek |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kaya, Namik |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of medical genetics |
| Related parts | vol. 52 |
| -- | no. 3 |
| -- | p. 186-94 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1136/jmedgenet-2014-102592">https://doi.org/10.1136/jmedgenet-2014-102592</a> |
| Public note | Available from publisher's website |
No items available.