First Portuguese patient presenting with hereditary sensory and autonomic neuropathy type 1E associated with a novel mutation in DNMT1 gene. (Record no. 30392028)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01330 a2200301 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250518073311.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 202105s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1590-3478 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1007/s10072-019-04179-6 |
| 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 | Coelho, Pedro |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20210514 |
| 245 00 - TITLE STATEMENT | |
| Title | First Portuguese patient presenting with hereditary sensory and autonomic neuropathy type 1E associated with a novel mutation in DNMT1 gene. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology |
| Date of publication, distribution, etc. | May 2020 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1289-1290 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Letter |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA (Cytosine-5-)-Methyltransferase 1 |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Hereditary Sensory and Autonomic Neuropathies |
| General subdivision | diagnosis |
| 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 | Mutation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pedigree |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Portugal |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Young Adult |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Oliveira Santos, Miguel |
| 773 0# - HOST ITEM ENTRY | |
| Title | Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology |
| Related parts | vol. 41 |
| -- | no. 5 |
| -- | p. 1289-1290 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1007/s10072-019-04179-6">https://doi.org/10.1007/s10072-019-04179-6</a> |
| Public note | Available from publisher's website |
No items available.