Somatic mosaic monosomy 7 and UPD7q in a child with MIRAGE syndrome caused by a novel SAMD9 mutation. (Record no. 29178556)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01302 a2200385 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250518013832.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201911s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1545-5017 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/pbc.27589 |
| 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 | Csillag, Bernhard |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20191121 |
| 245 00 - TITLE STATEMENT | |
| Title | Somatic mosaic monosomy 7 and UPD7q in a child with MIRAGE syndrome caused by a novel SAMD9 mutation. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Pediatric blood & cancer |
| Date of publication, distribution, etc. | 04 2019 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | e27589 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Child, Preschool |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosome Deletion |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosomes, Human, Pair 7 |
| 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 | Intracellular Signaling Peptides and Proteins |
| 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 |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Myelodysplastic Syndromes |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Proteins |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ilencikova, Denisa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Meissl, Manfred |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Webersinke, Gerald |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Laccone, Franco |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Narumi, Satoshi |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Haas, Oskar |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Duba, Hans-Christoph |
| 773 0# - HOST ITEM ENTRY | |
| Title | Pediatric blood & cancer |
| Related parts | vol. 66 |
| -- | no. 4 |
| -- | p. e27589 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/pbc.27589">https://doi.org/10.1002/pbc.27589</a> |
| Public note | Available from publisher's website |
No items available.