Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia. (Record no. 17085430)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01664 a2200541 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515071523.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200709s 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/ng2052 |
| 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 | Grzeschik, Karl-Heinz |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20070904 |
| 245 00 - TITLE STATEMENT | |
| Title | Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Nature genetics |
| Date of publication, distribution, etc. | Jul 2007 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 833-5 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 | Acyltransferases |
| 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 | Female |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Focal Dermal Hypoplasia |
| General subdivision | enzymology |
| 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 | Membrane Proteins |
| General subdivision | deficiency |
| 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 | Pedigree |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Signal Transduction |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Wnt Proteins |
| General subdivision | metabolism |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bornholdt, Dorothea |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Oeffner, Frank |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | König, Arne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | del Carmen Boente, María |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Enders, Herbert |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fritz, Barbara |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hertl, Michael |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Grasshoff, Ute |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Höfling, Katja |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Oji, Vinzenz |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Paradisi, Mauro |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schuchardt, Christian |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Szalai, Zsuzsanna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tadini, Gianluca |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Traupe, Heiko |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Happle, Rudolf |
| 773 0# - HOST ITEM ENTRY | |
| Title | Nature genetics |
| Related parts | vol. 39 |
| -- | no. 7 |
| -- | p. 833-5 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/ng2052">https://doi.org/10.1038/ng2052</a> |
| Public note | Available from publisher's website |
No items available.