A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions. (Record no. 27145457)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01176 a2200325 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517152725.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | ####s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1460-2083 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1093/hmg/ddx130 |
| 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 |
| 245 00 - TITLE STATEMENT | |
| Title | A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human molecular genetics |
| Date of publication, distribution, etc. | 05 2017 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1786 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Published Erratum |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Moore, David |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Delorme, Cécile |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lacas-Gervais, Sandra |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ait-El-Mkadem, Samira |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fragaki, Konstantina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Burté, Florence |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Serre, Valérie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bannwarth, Sylvie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chaussenot, Annabelle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Catala, Martin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yu-Wai-Man, Patrick |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Paquis-Flucklinger, Véronique |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human molecular genetics |
| Related parts | vol. 26 |
| -- | no. 9 |
| -- | p. 1786 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1093/hmg/ddx130">https://doi.org/10.1093/hmg/ddx130</a> |
| Public note | Available from publisher's website |
No items available.