APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients. (Record no. 27948845)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02403 a2200781 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517193525.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201803s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 2041-1723 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/s41467-017-02306-5 |
| 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 | Guéant, Jean-Louis |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20180305 |
| 245 00 - TITLE STATEMENT | |
| Title | APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Nature communications |
| Date of publication, distribution, etc. | 01 2018 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 67 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 | Alleles |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Azacitidine |
| General subdivision | pharmacology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Base Sequence |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Carrier Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Enzyme Inhibitors |
| General subdivision | pharmacology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Epistasis, Genetic |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Family Health |
| 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 | Fibroblasts |
| General subdivision | drug effects |
| 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 | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Metabolism, Inborn Errors |
| General subdivision | genetics |
| 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 | Oxidoreductases |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pedigree |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Peroxiredoxins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Vitamin B 12 |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Whole Genome Sequencing |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chéry, Céline |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Oussalah, Abderrahim |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nadaf, Javad |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Coelho, David |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Josse, Thomas |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Flayac, Justine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Robert, Aurélie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Koscinski, Isabelle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gastin, Isabelle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Filhine-Tresarrieu, Pierre |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pupavac, Mihaela |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brebner, Alison |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Watkins, David |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pastinen, Tomi |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Montpetit, Alexandre |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hariri, Fadi |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tregouët, David |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Raby, Benjamin A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chung, Wendy K |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Morange, Pierre-Emmanuel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Froese, D Sean |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Baumgartner, Matthias R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Benoist, Jean-François |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ficicioglu, Can |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Marchand, Virginie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Motorin, Yuri |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bonnemains, Chrystèle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Feillet, François |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Majewski, Jacek |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rosenblatt, David S |
| 773 0# - HOST ITEM ENTRY | |
| Title | Nature communications |
| Related parts | vol. 9 |
| -- | no. 1 |
| -- | p. 67 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/s41467-017-02306-5">https://doi.org/10.1038/s41467-017-02306-5</a> |
| Public note | Available from publisher's website |
No items available.