Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing. (Record no. 18480218)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01713 a2200529 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515150349.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200904s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1098-1004 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/humu.20888 |
| 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 | 20090410 |
| 245 00 - TITLE STATEMENT | |
| Title | Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human mutation |
| Date of publication, distribution, etc. | Feb 2009 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | E320-9 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 | Female |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genome, Human |
| 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 | Orofaciodigital Syndromes |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Polymerase Chain Reaction |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Analysis, DNA |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Deletion |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Franco, Brunella |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Saugier-Veber, Pascale |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Aral, Bernard |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gigot, Nadège |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Donzel, Anne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Van Maldergem, Lionel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bieth, Eric |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Layet, Valérie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mathieu, Michèle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Teebi, Ahmad |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lespinasse, James |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Callier, Patrick |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mugneret, Francine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Masurel-Paulet, Alice |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gautier, Elodie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Huet, Frédéric |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Teyssier, Jean-Raymond |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tosi, Mario |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Frébourg, Thierry |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Faivre, Laurence |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human mutation |
| Related parts | vol. 30 |
| -- | no. 2 |
| -- | p. E320-9 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/humu.20888">https://doi.org/10.1002/humu.20888</a> |
| Public note | Available from publisher's website |
No items available.