A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome. (Record no. 25174922)
[ view plain ]
| 000 -LEADER | |
|---|---|
| fixed length control field | 01726 a2200481 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517045800.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201512s 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.2015.07.009 |
| 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 | Johnston, Jennifer J |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20151208 |
| 245 00 - TITLE STATEMENT | |
| Title | A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of human genetics |
| Date of publication, distribution, etc. | Sep 2015 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 465-74 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Acro-Osteolysis |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA, Complementary |
| 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 | Genes, Dominant |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | HeLa Cells |
| 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 | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation, Missense |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Phosphorylation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Point Mutation |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Progeria |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Receptor, Platelet-Derived Growth Factor beta |
| General subdivision | genetics |
| 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 | Time Factors |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sanchez-Contreras, Monica Y |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Keppler-Noreuil, Kim M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sapp, Julie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Crenshaw, Molly |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Finch, NiCole A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cormier-Daire, Valerie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rademakers, Rosa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sybert, Virginia P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Biesecker, Leslie G |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of human genetics |
| Related parts | vol. 97 |
| -- | no. 3 |
| -- | p. 465-74 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ajhg.2015.07.009">https://doi.org/10.1016/j.ajhg.2015.07.009</a> |
| Public note | Available from publisher's website |
No items available.