Double de novo mutations of ELANE (ELA2) in a patient with severe congenital neutropenia requiring high-dose G-CSF therapy. (Record no. 19097110)
[ view plain ]
| 000 -LEADER | |
|---|---|
| fixed length control field | 01382 a2200373 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515183448.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201003s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1365-2141 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1111/j.1365-2141.2009.07866.x |
| 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 | Lundén, Lina |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20100330 |
| 245 00 - TITLE STATEMENT | |
| Title | Double de novo mutations of ELANE (ELA2) in a patient with severe congenital neutropenia requiring high-dose G-CSF therapy. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | British journal of haematology |
| Date of publication, distribution, etc. | Nov 2009 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 587-90 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Letter; 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 |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Mutational Analysis |
| General subdivision | methods |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Granulocyte Colony-Stimulating Factor |
| General subdivision | therapeutic use |
| 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 | Leukocyte Elastase |
| 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 | Mutation, Missense |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Neutropenia |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Boxhammer, Sandra |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Carlsson, Göran |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ellström, Karl-Gustav |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nordenskjöld, Magnus |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lagerstedt-Robinson, Kristina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fadeel, Bengt |
| 773 0# - HOST ITEM ENTRY | |
| Title | British journal of haematology |
| Related parts | vol. 147 |
| -- | no. 4 |
| -- | p. 587-90 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1111/j.1365-2141.2009.07866.x">https://doi.org/10.1111/j.1365-2141.2009.07866.x</a> |
| Public note | Available from publisher's website |
No items available.