Grand paternal inheritance of X-linked myotubular myopathy due to mosaicism, and identification of necklace fibers in an asymptomatic male. (Record no. 27285573)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01233 a2200349 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517160954.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201805s 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.2017.05.004 |
| 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 | Hedberg-Oldfors, Carola |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20180502 |
| 245 00 - TITLE STATEMENT | |
| Title | Grand paternal inheritance of X-linked myotubular myopathy due to mosaicism, and identification of necklace fibers in an asymptomatic male. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Neuromuscular disorders : NMD |
| Date of publication, distribution, etc. | Sep 2017 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 843-847 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article |
| 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 | Genes, X-Linked |
| 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 | Infant, Newborn |
| 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 | Mosaicism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Myopathies, Structural, Congenital |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Paternal Inheritance |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Visuttijai, Kittichate |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Topa, Alexandra |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tulinius, Mar |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Oldfors, Anders |
| 773 0# - HOST ITEM ENTRY | |
| Title | Neuromuscular disorders : NMD |
| Related parts | vol. 27 |
| -- | no. 9 |
| -- | p. 843-847 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.nmd.2017.05.004">https://doi.org/10.1016/j.nmd.2017.05.004</a> |
| Public note | Available from publisher's website |
No items available.