Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene. (Record no. 18905030)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01349 a2200421 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515172910.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200908s 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.21021 |
| 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 | Williams, Emma L |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20090813 |
| 245 00 - TITLE STATEMENT | |
| Title | Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human mutation |
| Date of publication, distribution, etc. | Jun 2009 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 910-7 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Review |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Alleles |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Animals |
| 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 | Humans |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Hyperoxaluria, Primary |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Polymorphism, Genetic |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Transaminases |
| General subdivision | chemistry |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Uniparental Disomy |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Acquaviva, Cecile |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Amoroso, Antonio |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chevalier, Francoise |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Coulter-Mackie, Marion |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Monico, Carla G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Giachino, Daniela |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Owen, Tricia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Robbiano, Angela |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Salido, Eduardo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Waterham, Hans |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rumsby, Gill |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human mutation |
| Related parts | vol. 30 |
| -- | no. 6 |
| -- | p. 910-7 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/humu.21021">https://doi.org/10.1002/humu.21021</a> |
| Public note | Available from publisher's website |
No items available.