Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. (Record no. 18455849)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01927 a2200625 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515145513.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200812s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1546-1718 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/ng.252 |
| 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 | Hennies, Hans Christian |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20081216 |
| 245 00 - TITLE STATEMENT | |
| Title | Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Nature genetics |
| Date of publication, distribution, etc. | Dec 2008 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1410-2 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 | Bone Diseases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Carrier Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosomes, Human, Pair 1 |
| 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 | Golgi Matrix Proteins |
| 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 | Male |
| 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 | Skin Diseases, Genetic |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | rab GTP-Binding Proteins |
| General subdivision | metabolism |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kornak, Uwe |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zhang, Haikuo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Egerer, Johannes |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zhang, Xin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Seifert, Wenke |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kühnisch, Jirko |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Budde, Birgit |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nätebus, Marc |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brancati, Francesco |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wilcox, William R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Müller, Dietmar |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kaplan, Paige B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rajab, Anna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zampino, Giuseppe |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fodale, Valentina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dallapiccola, Bruno |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Newman, William |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Metcalfe, Kay |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Clayton-Smith, Jill |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tassabehji, May |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Steinmann, Beat |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Barr, Francis A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nürnberg, Peter |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wieacker, Peter |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mundlos, Stefan |
| 773 0# - HOST ITEM ENTRY | |
| Title | Nature genetics |
| Related parts | vol. 40 |
| -- | no. 12 |
| -- | p. 1410-2 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/ng.252">https://doi.org/10.1038/ng.252</a> |
| Public note | Available from publisher's website |
No items available.