The nonsense mutation MSH2 c.2152C>T shows a founder effect in Portuguese Lynch syndrome families. (Record no. 29572674)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01875 a2200601 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250518033236.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 202001s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1098-2264 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/gcc.22759 |
| 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 | Pinheiro, Manuela |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20200109 |
| 245 00 - TITLE STATEMENT | |
| Title | The nonsense mutation MSH2 c.2152C>T shows a founder effect in Portuguese Lynch syndrome families. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Genes, chromosomes & cancer |
| Date of publication, distribution, etc. | 09 2019 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 657-664 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Codon, Nonsense |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Colorectal Neoplasms, Hereditary Nonpolyposis |
| 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 | Founder Effect |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Haplotypes |
| 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 | Microsatellite Repeats |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | MutS Homolog 2 Protein |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Polymorphism, Single Nucleotide |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Portugal |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Francisco, Inês |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pinto, Carla |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Peixoto, Ana |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Veiga, Isabel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Filipe, Bruno |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Santos, Catarina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Maia, Sofia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Silva, João |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pinto, Pedro |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Santos, Rui |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Claro, Isabel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lage, Pedro |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lopes, Paula |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ferreira, Sara |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rosa, Isadora |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fonseca, Ricardo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rodrigues, Paula |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Henrique, Rui |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chaves, Paula |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pereira, António Dias |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brandão, Catarina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Albuquerque, Cristina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Teixeira, Manuel R |
| 773 0# - HOST ITEM ENTRY | |
| Title | Genes, chromosomes & cancer |
| Related parts | vol. 58 |
| -- | no. 9 |
| -- | p. 657-664 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/gcc.22759">https://doi.org/10.1002/gcc.22759</a> |
| Public note | Available from publisher's website |
No items available.