Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness. (Record no. 22723630)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02032 a2200637 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516150223.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201307s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1537-6605 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.ajhg.2013.03.024 |
| 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 | Pingault, Veronique |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20130705 |
| 245 00 - TITLE STATEMENT | |
| Title | Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of human genetics |
| Date of publication, distribution, etc. | May 2013 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 707-24 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 | Animals |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Mutational Analysis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Deafness |
| 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 | France |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Galactosides |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Predisposition to Disease |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | HeLa Cells |
| 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 | Indoles |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Kallmann Syndrome |
| General subdivision | genetics |
| 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 | Mice |
| 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 | Neuroglia |
| General subdivision | pathology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Olfactory Pathways |
| General subdivision | pathology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Plasmids |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | SOXE Transcription Factors |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bodereau, Virginie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Baral, Viviane |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Marcos, Severine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Watanabe, Yuli |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chaoui, Asma |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fouveaut, Corinne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Leroy, Chrystel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vérier-Mine, Odile |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Francannet, Christine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dupin-Deguine, Delphine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Archambeaud, Françoise |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kurtz, François-Joseph |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Young, Jacques |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bertherat, Jérôme |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Marlin, Sandrine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Goossens, Michel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hardelin, Jean-Pierre |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dodé, Catherine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bondurand, Nadege |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of human genetics |
| Related parts | vol. 92 |
| -- | no. 5 |
| -- | p. 707-24 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ajhg.2013.03.024">https://doi.org/10.1016/j.ajhg.2013.03.024</a> |
| Public note | Available from publisher's website |
No items available.