Dual gene defects involving delta-aminolaevulinate dehydratase and coproporphyrinogen oxidase in a porphyria patient. (Record no. 16016068)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01539 a2200421 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515012426.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200602s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 0007-1048 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1111/j.1365-2141.2005.05852.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 | Akagi, Reiko |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20060206 |
| 245 00 - TITLE STATEMENT | |
| Title | Dual gene defects involving delta-aminolaevulinate dehydratase and coproporphyrinogen oxidase in a porphyria patient. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | British journal of haematology |
| Date of publication, distribution, etc. | Jan 2006 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 237-43 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| 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 | Coproporphyria, Hereditary |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Coproporphyrinogen Oxidase |
| General subdivision | genetics |
| 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 | DNA, Complementary |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Erythrocytes |
| General subdivision | enzymology |
| 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 | Humans |
| 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 | Models, Molecular |
| 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 | Porphobilinogen Synthase |
| General subdivision | deficiency |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Inoue, Rikako |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Muranaka, Shikibu |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tahara, Tsuyoshi |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Taketani, Shigeru |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Anderson, Karl E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Phillips, John D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sassa, Shigeru |
| 773 0# - HOST ITEM ENTRY | |
| Title | British journal of haematology |
| Related parts | vol. 132 |
| -- | no. 2 |
| -- | p. 237-43 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1111/j.1365-2141.2005.05852.x">https://doi.org/10.1111/j.1365-2141.2005.05852.x</a> |
| Public note | Available from publisher's website |
No items available.