Clinical dose effect and functional consequences of R92Q in two families presenting with a TRAPS/PFAPA-like phenotype. (Record no. 27033767)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01050 a2200289 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517145256.0 |
| 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 | 2324-9269 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/mgg3.229 |
| 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 | Grandemange, Sylvie |
| 245 00 - TITLE STATEMENT | |
| Title | Clinical dose effect and functional consequences of R92Q in two families presenting with a TRAPS/PFAPA-like phenotype. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Molecular genetics & genomic medicine |
| Date of publication, distribution, etc. | Mar 2017 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 110-116 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cabasson, Sébastien |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sarrabay, Guillaume |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pène, Jérôme |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rittore, Cécile |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sanchez, Elodie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chastang, Marie-Caroline |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Guyon, Gaël |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pillet, Pascal |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Touitou, Isabelle |
| 773 0# - HOST ITEM ENTRY | |
| Title | Molecular genetics & genomic medicine |
| Related parts | vol. 5 |
| -- | no. 2 |
| -- | p. 110-116 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/mgg3.229">https://doi.org/10.1002/mgg3.229</a> |
| Public note | Available from publisher's website |
No items available.