Molecular basis of Refsum disease: identification of new mutations in the phytanoyl-CoA hydroxylase cDNA. (Record no. 9652080)
[ view plain ]
| 000 -LEADER | |
|---|---|
| fixed length control field | 01289 a2200373 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250513150213.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 199811s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 0141-8955 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1023/a:1005388710197 |
| 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 | Jansen, G A |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 19981104 |
| 245 00 - TITLE STATEMENT | |
| Title | Molecular basis of Refsum disease: identification of new mutations in the phytanoyl-CoA hydroxylase cDNA. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of inherited metabolic disease |
| Date of publication, distribution, etc. | Jun 1998 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 288-91 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 | Amino Acid Substitution |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cells, Cultured |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA, Complementary |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Fibroblasts |
| 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 | Mixed Function Oxygenases |
| General subdivision | genetics |
| 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 | Refsum Disease |
| General subdivision | enzymology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Analysis, DNA |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ferdinandusse, S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Skjeldal, O H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stokke, O |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Groot, C J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jakobs, C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wanders, R J |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of inherited metabolic disease |
| Related parts | vol. 21 |
| -- | no. 3 |
| -- | p. 288-91 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1023/a:1005388710197">https://doi.org/10.1023/a:1005388710197</a> |
| Public note | Available from publisher's website |
No items available.