Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family. (Record no. 28369812)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01721 a2200529 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517214307.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201902s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1471-2350 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1186/s12881-018-0592-y |
| 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 | Elsayed, Liena E O |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20190225 |
| 245 00 - TITLE STATEMENT | |
| Title | Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | BMC medical genetics |
| Date of publication, distribution, etc. | 05 2018 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 72 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 | Female |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Association Studies |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Predisposition to Disease |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Group VI Phospholipases A2 |
| General subdivision | genetics |
| 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 | Infant |
| 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 | Mutation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Neuroaxonal Dystrophies |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | RNA Splice Sites |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Siblings |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sudan |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exome Sequencing |
| General subdivision | methods |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mohammed, Inaam N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hamed, Ahlam A A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Elseed, Maha A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Salih, Mustafa A M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yahia, Ashraf |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Siddig, Rayan A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Amin, Mutaz |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Koko, Mahmoud |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Elbashir, Mustafa I |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ibrahim, Muntaser E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brice, Alexis |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ahmed, Ammar E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stevanin, Giovanni |
| 773 0# - HOST ITEM ENTRY | |
| Title | BMC medical genetics |
| Related parts | vol. 19 |
| -- | no. 1 |
| -- | p. 72 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1186/s12881-018-0592-y">https://doi.org/10.1186/s12881-018-0592-y</a> |
| Public note | Available from publisher's website |
No items available.