The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype. (Record no. 25504152)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 03139 a2201009 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517065215.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201707s 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.2015.250 |
| 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 | Barat-Houari, Mouna |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20170726 |
| 245 00 - TITLE STATEMENT | |
| Title | The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | European journal of human genetics : EJHG |
| Date of publication, distribution, etc. | 07 2016 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 992-1000 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 | Amino Acid Substitution |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Arthritis |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Collagen Diseases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Collagen Type II |
| General subdivision | chemistry |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Connective Tissue Diseases |
| 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 | Hearing Loss, Sensorineural |
| General subdivision | genetics |
| 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 | Osteochondrodysplasias |
| General subdivision | genetics |
| 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 | Phenotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Protein Domains |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Retinal Detachment |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dumont, Bruno |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fabre, Aurélie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Them, Frédéric Tm |
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| Personal name | Alembik, Yves |
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| Personal name | Alessandri, Jean-Luc |
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| Personal name | Amiel, Jeanne |
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| Personal name | Audebert, Séverine |
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| Personal name | Brechard, Marie |
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| Personal name | Busa, Tiffany |
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| Personal name | Calvas, Patrick |
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| Personal name | Ciorca, Vidrica |
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| Personal name | Coubes, Christine |
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| Personal name | David, Albert |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Delezoide, Anne-Lise |
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| Personal name | Dupin-Deguine, Delphine |
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| Personal name | El Chehadeh, Salima |
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| Personal name | Julia, Sophie |
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| Personal name | Kaplan, Josseline |
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| Personal name | Lacombe, Didier |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lebrun, Marine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Marlin, Sandrine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Martin-Coignard, Dominique |
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| Personal name | Martinovic, Jelena |
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| Personal name | Masurel, Alice |
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| Personal name | Melki, Judith |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mozelle-Nivoix, Monique |
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| Personal name | Nguyen, Karine |
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| Personal name | Odent, Sylvie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Philip, Nicole |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pinson, Lucile |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Plessis, Ghislaine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Quélin, Chloé |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shaeffer, Elise |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sigaudy, Sabine |
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| Personal name | Thauvin, Christel |
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| Personal name | Till, Marianne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Touraine, Renaud |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vigneron, Jacqueline |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Baujat, Geneviève |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cormier-Daire, Valérie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Le Merrer, Martine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Geneviève, David |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Touitou, Isabelle |
| 773 0# - HOST ITEM ENTRY | |
| Title | European journal of human genetics : EJHG |
| Related parts | vol. 24 |
| -- | no. 7 |
| -- | p. 992-1000 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/ejhg.2015.250">https://doi.org/10.1038/ejhg.2015.250</a> |
| Public note | Available from publisher's website |
No items available.