Characterization of a Rare Nonpathogenic Methylenetetrahydrofolatereductase (MTHFR) Gene Mutation p.Lys215del in a Southern Italian family. (Record no. 26538613)
[ view plain ]
| 000 -LEADER | |
|---|---|
| fixed length control field | 01162 a2200337 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517122211.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201806s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1098-1004 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/humu.23132 |
| 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 | Palmirotta, Raffaele |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20180629 |
| 245 00 - TITLE STATEMENT | |
| Title | Characterization of a Rare Nonpathogenic Methylenetetrahydrofolatereductase (MTHFR) Gene Mutation p.Lys215del in a Southern Italian family. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human mutation |
| Date of publication, distribution, etc. | 01 2017 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 120-121 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Letter; Comment |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Italy |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Methylenetetrahydrofolate Reductase (NADPH2) |
| General subdivision | genetics |
| 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 | Polymorphism, Genetic |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Risk Factors |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lovero, Domenica |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Silvestris, Erica |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Simone, Valeria |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lanotte, Laura |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Quaresmini, Davide |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Silvestris, Franco |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human mutation |
| Related parts | vol. 38 |
| -- | no. 1 |
| -- | p. 120-121 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/humu.23132">https://doi.org/10.1002/humu.23132</a> |
| Public note | Available from publisher's website |
No items available.