Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3). (Record no. 18734519)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02139 a2200625 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515163138.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200905s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1432-1203 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1007/s00439-009-0653-6 |
| 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 | van Kuilenburg, André B P |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20090526 |
| 245 00 - TITLE STATEMENT | |
| Title | Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3). |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human genetics |
| Date of publication, distribution, etc. | Jun 2009 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 581-90 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 | Base Sequence |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Child, Preschool |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosomes, Human, Pair 1 |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Comparative Genomic Hybridization |
| 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 | Dihydropyrimidine Dehydrogenase Deficiency |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Dihydrouracil Dehydrogenase (NADP) |
| 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 | Female |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Gene Rearrangement |
| 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, Fluorescence |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Infant |
| 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 | Pyrimidines |
| General subdivision | analysis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Deletion |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Meijer, Judith |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mul, Adri N P M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hennekam, Raoul C M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hoovers, Jan M N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Die-Smulders, Christine E M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Weber, Peter |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mori, Andrea Capone |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bierau, Jörgen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fowler, Brian |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Macke, Klaus |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sass, Jörn Oliver |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Meinsma, Rutger |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hennermann, Julia B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Miny, Peter |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zoetekouw, Lida |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vijzelaar, Raymon |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nicolai, Joost |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ylstra, Bauke |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rubio-Gozalbo, M Estela |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human genetics |
| Related parts | vol. 125 |
| -- | no. 5-6 |
| -- | p. 581-90 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1007/s00439-009-0653-6">https://doi.org/10.1007/s00439-009-0653-6</a> |
| Public note | Available from publisher's website |
No items available.