The in cis T251I and P587L POLG1 base changes: description of a new family and literature review. (Record no. 24602912)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01662 a2200505 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517014747.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201512s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1873-2364 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.nmd.2015.01.004 |
| 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 | Scuderi, Carmela |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20151207 |
| 245 00 - TITLE STATEMENT | |
| Title | The in cis T251I and P587L POLG1 base changes: description of a new family and literature review. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Neuromuscular disorders : NMD |
| Date of publication, distribution, etc. | Apr 2015 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 333-9 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article; Review |
| 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 | Adult |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Child |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Polymerase gamma |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA-Directed DNA Polymerase |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Family |
| 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 | Humans |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Intellectual Disability |
| General subdivision | genetics |
| 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 | Middle Aged |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mitochondrial Diseases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Point Mutation |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Borgione, Eugenia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Castello, Filippa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lo Giudice, Mariangela |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Santa Paola, Sandro |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Giambirtone, Mariaconcetta |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Di Blasi, Francesco Domenico |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Elia, Maurizio |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Amato, Carmelo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Città, Santina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gagliano, Catalda |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Barbarino, Giuliano |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vitello, Girolamo Aurelio |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Musumeci, Sebastiano Antonino |
| 773 0# - HOST ITEM ENTRY | |
| Title | Neuromuscular disorders : NMD |
| Related parts | vol. 25 |
| -- | no. 4 |
| -- | p. 333-9 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.nmd.2015.01.004">https://doi.org/10.1016/j.nmd.2015.01.004</a> |
| Public note | Available from publisher's website |
No items available.