Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears. (Record no. 23300639)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02113 a2200649 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516182706.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201402s 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.2013.10.023 |
| 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 | 20140212 |
| 245 00 - TITLE STATEMENT | |
| Title | Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of human genetics |
| Date of publication, distribution, etc. | Dec 2013 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1118-25 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; 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 Sequence |
| 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 | DNA Mutational Analysis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Ear |
| General subdivision | abnormalities |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Ear Diseases |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Endothelin-1 |
| 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 | Genes, Dominant |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genes, Recessive |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genotype |
| 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 | Molecular Sequence Data |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation |
| 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 | Sequence Alignment |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Signal Transduction |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Petit, Florence |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kroisel, Peter M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jakobsen, Linda |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zechi-Ceide, Roseli Maria |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Oufadem, Myriam |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bole-Feysot, Christine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pruvost, Solenn |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Masson, Cécile |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tores, Frédéric |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hieu, Thierry |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nitschké, Patrick |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lindholm, Pernille |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pellerin, Philippe |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Guion-Almeida, Maria Leine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kokitsu-Nakata, Nancy Mizue |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vendramini-Pittoli, Siulan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Munnich, Arnold |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lyonnet, Stanislas |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Holder-Espinasse, Muriel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Amiel, Jeanne |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of human genetics |
| Related parts | vol. 93 |
| -- | no. 6 |
| -- | p. 1118-25 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ajhg.2013.10.023">https://doi.org/10.1016/j.ajhg.2013.10.023</a> |
| Public note | Available from publisher's website |
No items available.