CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders. (Record no. 22474848)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 03121 a2201033 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516133341.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201309s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1468-6244 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1136/jmedgenet-2012-101427 |
| 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 | Thauvin-Robinet, Christel |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20130903 |
| 245 00 - TITLE STATEMENT | |
| Title | CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of medical genetics |
| Date of publication, distribution, etc. | Apr 2013 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 220-7 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 | Child |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Child, Preschool |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cystic Fibrosis |
| General subdivision | complications |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cystic Fibrosis Transmembrane Conductance Regulator |
| 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 | 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 | Infant, Newborn |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Infertility, Male |
| General subdivision | complications |
| 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 | Male Urogenital Diseases |
| General subdivision | complications |
| 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 | Mutation Rate |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Phenotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Prenatal Diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sweat |
| General subdivision | chemistry |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Vas Deferens |
| General subdivision | abnormalities |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Munck, Anne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Huet, Frédéric |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Becdelièvre, Alix |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jimenez, Clément |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lalau, Guy |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gautier, Elodie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rollet, Jacques |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Flori, Jean |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nové-Josserand, Raphaëlle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Soufir, Jean-Claude |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Haloun, Alain |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hubert, Dominique |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Houssin, Elise |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bellis, Gil |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rault, Gilles |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | David, Albert |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Janny, Laurent |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chiron, Raphaël |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rives, Nathalie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hairion, Dominique |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Collignon, Patrick |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Valeri, Antoine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Karsenty, Gilles |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rossi, Annick |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Audrézet, Marie-Pierre |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Férec, Claude |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Leclerc, Julie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Georges, Marie des |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Claustres, Mireille |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bienvenu, Thierry |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gérard, Bénédicte |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Boisseau, Pierre |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cabet-Bey, Faïza |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cheillan, David |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Feldmann, Delphine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Clavel, Christine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bieth, Eric |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Iron, Albert |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Simon-Bouy, Brigitte |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Izard, Vincent |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Steffann, Julie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Viville, Stéphane |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Costa, Catherine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Drouineaud, Véronique |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fauque, Patricia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Binquet, Christine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bonithon-Kopp, Claire |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Morris, Mike A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Faivre, Laurence |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Goossens, Michel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Roussey, Michel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Girodon, Emmanuelle |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of medical genetics |
| Related parts | vol. 50 |
| -- | no. 4 |
| -- | p. 220-7 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1136/jmedgenet-2012-101427">https://doi.org/10.1136/jmedgenet-2012-101427</a> |
| Public note | Available from publisher's website |
No items available.