Next generation sequencing in family with MNGIE syndrome associated to optic atrophy: Novel homozygous POLG mutation in the C-terminal sub-domain leading to mtDNA depletion. (Record no. 29012225)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01803 a2200493 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250518005101.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201903s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1873-3492 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.cca.2018.11.003 |
| 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 | Felhi, Rahma |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20190301 |
| 245 00 - TITLE STATEMENT | |
| Title | Next generation sequencing in family with MNGIE syndrome associated to optic atrophy: Novel homozygous POLG mutation in the C-terminal sub-domain leading to mtDNA depletion. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Clinica chimica acta; international journal of clinical chemistry |
| Date of publication, distribution, etc. | Jan 2019 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 104-110 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article |
| 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 | Child |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Polymerase gamma |
| 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 | Humans |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Intestinal Pseudo-Obstruction |
| 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 | Mitochondrial Encephalomyopathies |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Muscular Dystrophy, Oculopharyngeal |
| 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 | Ophthalmoplegia |
| General subdivision | congenital |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Optic Atrophy |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sfaihi, Lamia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Charif, Majida |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Desquiret-Dumas, Valerie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bris, Céline |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Goudenège, David |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ammar-Keskes, Leila |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hachicha, Mongia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bonneau, Dominique |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Procaccio, Vincent |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Reynier, Pascal |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Amati-Bonneau, Patrizia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lenaers, Guy |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fakhfakh, Faiza |
| 773 0# - HOST ITEM ENTRY | |
| Title | Clinica chimica acta; international journal of clinical chemistry |
| Related parts | vol. 488 |
| -- | p. 104-110 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.cca.2018.11.003">https://doi.org/10.1016/j.cca.2018.11.003</a> |
| Public note | Available from publisher's website |
No items available.