Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome. (Record no. 26861147)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02177 a2200673 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517135939.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201708s 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.2016.204 |
| 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 | Quartier, Angélique |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20170807 |
| 245 00 - TITLE STATEMENT | |
| Title | Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | European journal of human genetics : EJHG |
| Date of publication, distribution, etc. | 04 2017 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 423-431 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article; Meta-Analysis; Systematic Review |
| 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 | Fragile X Mental Retardation Protein |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Fragile X Syndrome |
| General subdivision | diagnosis |
| 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 | Middle Aged |
| 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 | Polymorphism, Single Nucleotide |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | RNA Splicing |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Siblings |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Poquet, Hélène |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gilbert-Dussardier, Brigitte |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rossi, Massimiliano |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Casteleyn, Anne-Sophie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Portes, Vincent des |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Feger, Claire |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nourisson, Elsa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kuentz, Paul |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Redin, Claire |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Thevenon, Julien |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mosca-Boidron, Anne-Laure |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Callier, Patrick |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Muller, Jean |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lesca, Gaetan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Huet, Frédéric |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Geoffroy, Véronique |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | El Chehadeh, Salima |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jung, Matthieu |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Trojak, Benoit |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Le Gras, Stéphanie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lehalle, Daphné |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jost, Bernard |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Maury, Stéphanie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Masurel, Alice |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Edery, Patrick |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Thauvin-Robinet, Christel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gérard, Bénédicte |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mandel, Jean-Louis |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Faivre, Laurence |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Piton, Amélie |
| 773 0# - HOST ITEM ENTRY | |
| Title | European journal of human genetics : EJHG |
| Related parts | vol. 25 |
| -- | no. 4 |
| -- | p. 423-431 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/ejhg.2016.204">https://doi.org/10.1038/ejhg.2016.204</a> |
| Public note | Available from publisher's website |
No items available.