Weak definition of IKBKAP exon 20 leads to aberrant splicing in familial dysautonomia. (Record no. 16547366)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01597 a2200469 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515041251.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200702s 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.20401 |
| 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 | Ibrahim, El Chérif |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20070209 |
| 245 00 - TITLE STATEMENT | |
| Title | Weak definition of IKBKAP exon 20 leads to aberrant splicing in familial dysautonomia. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human mutation |
| Date of publication, distribution, etc. | Jan 2007 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 41-53 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 | Alternative Splicing |
| General subdivision | physiology |
| 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 | Carrier Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cell-Free System |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cells, Cultured |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cloning, Molecular |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Computational Biology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Dysautonomia, Familial |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exons |
| 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 | Molecular Sequence Data |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Oligonucleotides |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | RNA Polymerase II |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | RNA Splice Sites |
| General subdivision | genetics |
| 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 | Sequence Analysis, DNA |
| General subdivision | methods |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Transcriptional Elongation Factors |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Transfection |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hims, Matthew M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shomron, Noam |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Burge, Christopher B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Slaugenhaupt, Susan A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Reed, Robin |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human mutation |
| Related parts | vol. 28 |
| -- | no. 1 |
| -- | p. 41-53 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/humu.20401">https://doi.org/10.1002/humu.20401</a> |
| Public note | Available from publisher's website |
No items available.