Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1. (Record no. 25466453)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01225 a2200361 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517063831.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201511s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 2090-6544 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1155/2015/454526 |
| 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 | Jacobsen, Jessie C |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20151120 |
| 245 00 - TITLE STATEMENT | |
| Title | Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Case reports in genetics |
| Date of publication, distribution, etc. | 2015 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 454526 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Glamuzina, Emma |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Taylor, Juliet |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Swan, Brendan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Handisides, Shona |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wilson, Callum |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fietz, Michael |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Dijk, Tessa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Appelhof, Bart |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hill, Rosamund |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Marks, Rosemary |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Love, Donald R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Robertson, Stephen P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Snell, Russell G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lehnert, Klaus |
| 773 0# - HOST ITEM ENTRY | |
| Title | Case reports in genetics |
| Related parts | vol. 2015 |
| -- | p. 454526 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1155/2015/454526">https://doi.org/10.1155/2015/454526</a> |
| Public note | Available from publisher's website |
No items available.