Café-au-lait macules and pediatric malignancy caused by biallelic mutations in the DNA mismatch repair (MMR) gene PMS2. (Record no. 17778695)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01569 a2200457 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515110548.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200805s 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.21514 |
| 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 | Jackson, Carl-Christian |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20080506 |
| 245 00 - TITLE STATEMENT | |
| Title | Café-au-lait macules and pediatric malignancy caused by biallelic mutations in the DNA mismatch repair (MMR) gene PMS2. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Pediatric blood & cancer |
| Date of publication, distribution, etc. | Jun 2008 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1268-70 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 | Adenosine Triphosphatases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adolescent |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Alleles |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cafe-au-Lait Spots |
| General subdivision | complications |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Colorectal Neoplasms, Hereditary Nonpolyposis |
| General subdivision | complications |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Mismatch Repair |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Repair Enzymes |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA-Binding Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Germ-Line Mutation |
| 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 | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mismatch Repair Endonuclease PMS2 |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation, Missense |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pedigree |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Holter, Spring |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pollett, Aaron |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Clendenning, Mark |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chou, Shirley |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Senter, Leigha |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ramphal, Raveena |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gallinger, Steven |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Boycott, Kym |
| 773 0# - HOST ITEM ENTRY | |
| Title | Pediatric blood & cancer |
| Related parts | vol. 50 |
| -- | no. 6 |
| -- | p. 1268-70 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/pbc.21514">https://doi.org/10.1002/pbc.21514</a> |
| Public note | Available from publisher's website |
No items available.