DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. (Record no. 24749938)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02207 a2200637 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517023602.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201505s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1537-6605 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.ajhg.2015.02.015 |
| 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 | White, Janson |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20150529 |
| 245 00 - TITLE STATEMENT | |
| Title | DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of human genetics |
| Date of publication, distribution, etc. | Apr 2015 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 612-22 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adaptor Proteins, Signal Transducing |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Amino Acid Sequence |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Base Sequence |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Craniofacial Abnormalities |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Primers |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Dishevelled Proteins |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Dwarfism |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exome |
| General subdivision | genetics |
| 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 | Frameshift Mutation |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Gene Components |
| 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 | Limb Deformities, Congenital |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Molecular Sequence Data |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Phosphoproteins |
| General subdivision | genetics |
| 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 | Urogenital Abnormalities |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mazzeu, Juliana F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hoischen, Alexander |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jhangiani, Shalini N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gambin, Tomasz |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Alcino, Michele Calijorne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Penney, Samantha |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Saraiva, Jorge M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hove, Hanne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Skovby, Flemming |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kayserili, Hülya |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Estrella, Elicia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vulto-van Silfhout, Anneke T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Steehouwer, Marloes |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Muzny, Donna M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sutton, V Reid |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gibbs, Richard A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lupski, James R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brunner, Han G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Bon, Bregje W M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Carvalho, Claudia M B |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of human genetics |
| Related parts | vol. 96 |
| -- | no. 4 |
| -- | p. 612-22 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ajhg.2015.02.015">https://doi.org/10.1016/j.ajhg.2015.02.015</a> |
| Public note | Available from publisher's website |
No items available.