Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia. (Record no. 24709704)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02690 a2200817 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517022235.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201505s 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.2015.01.015 |
| 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 | Gordon, Christopher T |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20150529 |
| 245 00 - TITLE STATEMENT | |
| Title | Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of human genetics |
| Date of publication, distribution, etc. | Apr 2015 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 519-31 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Alopecia |
| General subdivision | genetics |
| 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 | Base Sequence |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Endothelin-1 |
| General subdivision | metabolism |
| 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 | Humans |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | In Situ Hybridization |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mandibulofacial Dysostosis |
| General subdivision | genetics |
| 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 | Morpholinos |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation, Missense |
| 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 | RNA, Messenger |
| General subdivision | administration & dosage |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Real-Time Polymerase Chain Reaction |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Receptor, Endothelin A |
| 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 | Syndrome |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Tomography, X-Ray Computed |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Zebrafish |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Zygoma |
| General subdivision | pathology |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Weaver, K Nicole |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zechi-Ceide, Roseli Maria |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Madsen, Erik C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tavares, Andre L P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Oufadem, Myriam |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kurihara, Yukiko |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Adameyko, Igor |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Picard, Arnaud |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Breton, Sylvain |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pierrot, Sébastien |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Biosse-Duplan, Martin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Voisin, Norine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Masson, Cécile |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bole-Feysot, Christine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nitschké, Patrick |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Delrue, Marie-Ange |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lacombe, Didier |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Guion-Almeida, Maria Leine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Moura, Priscila Padilha |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Garib, Daniela Gamba |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Munnich, Arnold |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ernfors, Patrik |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hufnagel, Robert B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hopkin, Robert J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kurihara, Hiroki |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Saal, Howard M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Weaver, David D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Katsanis, Nicholas |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lyonnet, Stanislas |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Golzio, Christelle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Clouthier, David E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Amiel, Jeanne |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of human genetics |
| Related parts | vol. 96 |
| -- | no. 4 |
| -- | p. 519-31 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ajhg.2015.01.015">https://doi.org/10.1016/j.ajhg.2015.01.015</a> |
| Public note | Available from publisher's website |
No items available.