Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. (Record no. 22549594)
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|---|---|
| fixed length control field | 02492 a2200745 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516140000.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201310s 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-2012-101284 |
| 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 | Schmidts, Miriam |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20131018 |
| 245 00 - TITLE STATEMENT | |
| Title | Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of medical genetics |
| Date of publication, distribution, etc. | May 2013 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 309-23 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 | Base Sequence |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cytoplasmic Dyneins |
| General subdivision | chemistry |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Ellis-Van Creveld Syndrome |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exome |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Gene Components |
| 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 | Microscopy, Fluorescence |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Models, Molecular |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Molecular Sequence Data |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Polymorphism, Single Nucleotide |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Protein Conformation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Analysis, DNA |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Arts, Heleen H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bongers, Ernie M H F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yap, Zhimin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Oud, Machteld M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Antony, Dinu |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Duijkers, Lonneke |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Emes, Richard D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stalker, Jim |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yntema, Jan-Bart L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Plagnol, Vincent |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hoischen, Alexander |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gilissen, Christian |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Forsythe, Elisabeth |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lausch, Ekkehart |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Veltman, Joris A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Roeleveld, Nel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Superti-Furga, Andrea |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kutkowska-Kazmierczak, Anna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kamsteeg, Erik-Jan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Elçioğlu, Nursel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Maarle, Merel C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Graul-Neumann, Luitgard M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Devriendt, Koenraad |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Smithson, Sarah F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wellesley, Diana |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Verbeek, Nienke E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hennekam, Raoul C M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kayserili, Hulya |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Scambler, Peter J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Beales, Philip L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Knoers, Nine Vam |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Roepman, Ronald |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mitchison, Hannah M |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of medical genetics |
| Related parts | vol. 50 |
| -- | no. 5 |
| -- | p. 309-23 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1136/jmedgenet-2012-101284">https://doi.org/10.1136/jmedgenet-2012-101284</a> |
| Public note | Available from publisher's website |
No items available.