A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin. (Record no. 14311663)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02031 a2200613 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250514160756.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200404s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1046-6673 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1097/01.asn.0000092147.83480.b5 |
| 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 | Dahan, Karin |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20040408 |
| 245 00 - TITLE STATEMENT | |
| Title | A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of the American Society of Nephrology : JASN |
| Date of publication, distribution, etc. | Nov 2003 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 2883-93 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 | Adolescent |
| 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 |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exons |
| 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 | Humans |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Hyperuricemia |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Kidney Failure, Chronic |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Loop of Henle |
| General subdivision | metabolism |
| 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 | Middle Aged |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mucoproteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Multigene Family |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation |
| General subdivision | genetics |
| 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 | Uromodulin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Devuyst, Olivier |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Smaers, Michèle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vertommen, Didier |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Loute, Guy |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Poux, Jean-Michel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Viron, Béatrice |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jacquot, Christian |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gagnadoux, Marie-France |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chauveau, Dominique |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Büchler, Mathias |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cochat, Pierre |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cosyns, Jean-Pierre |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mougenot, Béatrice |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rider, Mark H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Antignac, Corinne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Verellen-Dumoulin, Christine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pirson, Yves |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of the American Society of Nephrology : JASN |
| Related parts | vol. 14 |
| -- | no. 11 |
| -- | p. 2883-93 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1097/01.asn.0000092147.83480.b5">https://doi.org/10.1097/01.asn.0000092147.83480.b5</a> |
| Public note | Available from publisher's website |
No items available.