A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease. (Record no. 22756931)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01630 a2200505 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516151420.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201401s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1750-1172 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1186/1750-1172-8-74 |
| 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 | Morgan, Neil V |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20140102 |
| 245 00 - TITLE STATEMENT | |
| Title | A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Orphanet journal of rare diseases |
| Date of publication, distribution, etc. | May 2013 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 74 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Bile Acids and Salts |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cholestasis |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Consanguinity |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Helicases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exome |
| 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 | Frameshift Mutation |
| 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 | Infant |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Liver Diseases |
| General subdivision | diagnosis |
| 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 | Oxidoreductases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Phenotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Analysis, DNA |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Severity of Illness Index |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hartley, Jane L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Setchell, Kenneth D R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Simpson, Michael A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brown, Rachel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tee, Louise |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kirkham, Sian |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pasha, Shanaz |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Trembath, Richard C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Maher, Eamonn R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gissen, Paul |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kelly, Deirdre A |
| 773 0# - HOST ITEM ENTRY | |
| Title | Orphanet journal of rare diseases |
| Related parts | vol. 8 |
| -- | p. 74 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1186/1750-1172-8-74">https://doi.org/10.1186/1750-1172-8-74</a> |
| Public note | Available from publisher's website |
No items available.