A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. (Record no. 16891571)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01654 a2200517 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515060752.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200706s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1061-4036 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/ng1992 |
| 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 | Risheg, Hiba |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20070606 |
| 245 00 - TITLE STATEMENT | |
| Title | A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Nature genetics |
| Date of publication, distribution, etc. | Apr 2007 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 451-3 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: 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 | Amino Acid Substitution |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Arginine |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Family |
| 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 | Genetic Diseases, X-Linked |
| 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 | Intellectual Disability |
| 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 | Mediator Complex |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Muscle Hypotonia |
| General subdivision | genetics |
| 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 | Receptors, Thyroid Hormone |
| General subdivision | genetics |
| 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 | Tryptophan |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Graham, John M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Clark, Robin D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rogers, R Curtis |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Opitz, John M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Moeschler, John B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Peiffer, Andreas P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | May, Melanie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Joseph, Sumy M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jones, Julie R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stevenson, Roger E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schwartz, Charles E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Friez, Michael J |
| 773 0# - HOST ITEM ENTRY | |
| Title | Nature genetics |
| Related parts | vol. 39 |
| -- | no. 4 |
| -- | p. 451-3 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/ng1992">https://doi.org/10.1038/ng1992</a> |
| Public note | Available from publisher's website |
No items available.