Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT. (Record no. 12495881)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01726 a2200541 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250514064454.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200305s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1061-4036 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/ng1147 |
| 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 | Carlton, Victoria E H |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20030527 |
| 245 00 - TITLE STATEMENT | |
| Title | Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Nature genetics |
| Date of publication, distribution, etc. | May 2003 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 91-6 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Acyltransferases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Bile Acids and Salts |
| General subdivision | blood |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Case-Control Studies |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Ethnicity |
| General subdivision | genetics |
| 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 | Genotype |
| 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 | Linkage Disequilibrium |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Liver |
| General subdivision | pathology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Malabsorption Syndromes |
| General subdivision | blood |
| 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 | Membrane Proteins |
| 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 | Pedigree |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pennsylvania |
| 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 | Tight Junctions |
| General subdivision | pathology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Zonula Occludens-2 Protein |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Harris, Baruch Z |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Puffenberger, Erik G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Batta, A K |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Knisely, A S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Robinson, Donna L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Strauss, Kevin A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shneider, Benjamin L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lim, Wendell A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Salen, Gerald |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Morton, D Holmes |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bull, Laura N |
| 773 0# - HOST ITEM ENTRY | |
| Title | Nature genetics |
| Related parts | vol. 34 |
| -- | no. 1 |
| -- | p. 91-6 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/ng1147">https://doi.org/10.1038/ng1147</a> |
| Public note | Available from publisher's website |
No items available.