Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy. (Record no. 26327154)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02444 a2200769 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517111816.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201705s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1537-6605 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.ajhg.2016.06.021 |
| 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 | Guimier, Anne |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20170502 |
| 245 00 - TITLE STATEMENT | |
| Title | Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of human genetics |
| Date of publication, distribution, etc. | 09 2016 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 666-673 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Alleles |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Death, Sudden, Cardiac |
| General subdivision | etiology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Diphosphates |
| 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 | Gene Deletion |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genes, Essential |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Complementation Test |
| 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 | Inorganic Pyrophosphatase |
| 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 | Membrane Potential, Mitochondrial |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Microbial Viability |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mitochondria |
| General subdivision | enzymology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mitochondrial Proteins |
| General subdivision | genetics |
| 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 | Mutation, Missense |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Proton Pumps |
| General subdivision | deficiency |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Saccharomyces cerevisiae |
| General subdivision | cytology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Saccharomyces cerevisiae Proteins |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gordon, Christopher T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Godard, François |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ravenscroft, Gianina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Oufadem, Myriam |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vasnier, Christelle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rambaud, Caroline |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nitschke, Patrick |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bole-Feysot, Christine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Masson, Cécile |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dauger, Stéphane |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Longman, Cheryl |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Laing, Nigel G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kugener, Béatrice |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bonnet, Damien |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bouvagnet, Patrice |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Di Filippo, Sylvie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Probst, Vincent |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Redon, Richard |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Charron, Philippe |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rötig, Agnès |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lyonnet, Stanislas |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dautant, Alain |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Pontual, Loïc |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | di Rago, Jean-Paul |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Delahodde, Agnès |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Amiel, Jeanne |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of human genetics |
| Related parts | vol. 99 |
| -- | no. 3 |
| -- | p. 666-673 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ajhg.2016.06.021">https://doi.org/10.1016/j.ajhg.2016.06.021</a> |
| Public note | Available from publisher's website |
No items available.