Characterization of six novel mutations in CYBA: the gene causing autosomal recessive chronic granulomatous disease. (Record no. 17920568)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01564 a2200457 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515115524.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200809s 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.1365-2141.2008.07148.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 | Teimourian, Shahram |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20080904 |
| 245 00 - TITLE STATEMENT | |
| Title | Characterization of six novel mutations in CYBA: the gene causing autosomal recessive chronic granulomatous disease. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | British journal of haematology |
| Date of publication, distribution, etc. | Jun 2008 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 848-51 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adult |
| 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 | Child, Preschool |
| 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 | Female |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genes, Recessive |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Granulomatous Disease, Chronic |
| General subdivision | enzymology |
| 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 | Immunophenotyping |
| 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 |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | NADPH Dehydrogenase |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | NADPH Oxidases |
| General subdivision | deficiency |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Neutrophils |
| General subdivision | immunology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Polymerase Chain Reaction |
| General subdivision | methods |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zomorodian, Elham |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Badalzadeh, Mohsen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pouya, Alireza |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kannengiesser, Caroline |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mansouri, Davood |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cheraghi, Taher |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Parvaneh, Nima |
| 773 0# - HOST ITEM ENTRY | |
| Title | British journal of haematology |
| Related parts | vol. 141 |
| -- | no. 6 |
| -- | p. 848-51 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1111/j.1365-2141.2008.07148.x">https://doi.org/10.1111/j.1365-2141.2008.07148.x</a> |
| Public note | Available from publisher's website |
No items available.