Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort. (Record no. 22981593)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02336 a2200733 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516163353.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201411s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1476-5438 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/ejhg.2013.171 |
| 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 | Rouzier, Cécile |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20141118 |
| 245 00 - TITLE STATEMENT | |
| Title | Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | European journal of human genetics : EJHG |
| Date of publication, distribution, etc. | Apr 2014 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 542-50 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 | Adult |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Aged |
| 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 | Cohort Studies |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Polymerase gamma |
| 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 | DNA-Directed DNA Polymerase |
| General subdivision | deficiency |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Epilepsia Partialis Continua |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exons |
| 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 | France |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Gene Rearrangement |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Heterozygote |
| 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 | 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 | Multiplex Polymerase Chain Reaction |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Phenotype |
| 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 | Sequence Deletion |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | White People |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Young Adult |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chaussenot, Annabelle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Serre, Valérie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fragaki, Konstantina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bannwarth, Sylvie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ait-El-Mkadem, Samira |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Attarian, Shahram |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kaphan, Elsa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cano, Aline |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Delmont, Emilien |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sacconi, Sabrina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mousson de Camaret, Bénédicte |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rio, Marlène |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lebre, Anne-Sophie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jardel, Claude |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Deschamps, Romain |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Richelme, Christian |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pouget, Jean |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chabrol, Brigitte |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Paquis-Flucklinger, Véronique |
| 773 0# - HOST ITEM ENTRY | |
| Title | European journal of human genetics : EJHG |
| Related parts | vol. 22 |
| -- | no. 4 |
| -- | p. 542-50 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/ejhg.2013.171">https://doi.org/10.1038/ejhg.2013.171</a> |
| Public note | Available from publisher's website |
No items available.