Genome sequencing reveals a deep intronic splicing (Record no. 28863845)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01981 a2200613 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250518000715.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201911s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1468-6244 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1136/jmedgenet-2018-105561 |
| 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 | Wooderchak-Donahue, Whitney L |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20191114 |
| 245 00 - TITLE STATEMENT | |
| Title | Genome sequencing reveals a deep intronic splicing |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of medical genetics |
| Date of publication, distribution, etc. | 12 2018 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 824-830 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 | Activin Receptors, Type II |
| General subdivision | genetics |
| 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 | Case-Control Studies |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosome Mapping |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Computational Biology |
| General subdivision | methods |
| 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 Association Studies |
| General subdivision | methods |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Predisposition to Disease |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genomics |
| General subdivision | methods |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | High-Throughput Nucleotide Sequencing |
| 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 | Introns |
| 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 | Multigene Family |
| 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 | RNA Splicing |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | RNA, Untranslated |
| 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 | Telangiectasia, Hereditary Hemorrhagic |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Translocation, Genetic |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | McDonald, Jamie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Farrell, Andrew |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Akay, Gulsen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Velinder, Matt |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Johnson, Peter |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | VanSant-Webb, Chad |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Margraf, Rebecca |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Briggs, Eric |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Whitehead, Kevin J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Thomson, Jennifer |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lin, Angela E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pyeritz, Reed E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Marth, Gabor |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bayrak-Toydemir, Pinar |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of medical genetics |
| Related parts | vol. 55 |
| -- | no. 12 |
| -- | p. 824-830 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1136/jmedgenet-2018-105561">https://doi.org/10.1136/jmedgenet-2018-105561</a> |
| Public note | Available from publisher's website |
No items available.