De novo mutations in FLNC leading to early-onset restrictive cardiomyopathy and congenital myopathy. (Record no. 28487138)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01822 a2200589 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517221618.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201907s 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.23559 |
| 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 | Kiselev, Artem |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20190726 |
| 245 00 - TITLE STATEMENT | |
| Title | De novo mutations in FLNC leading to early-onset restrictive cardiomyopathy and congenital myopathy. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human mutation |
| Date of publication, distribution, etc. | 09 2018 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1161-1172 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 | Adolescent |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cardiomyopathy, Restrictive |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Child, Preschool |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Congenital Abnormalities |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Mutational Analysis |
| 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 | Filamins |
| General subdivision | genetics |
| 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 |
| 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 | Muscular Diseases |
| 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 | Pedigree |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Phenotype |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vaz, Raquel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Knyazeva, Anastasia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Khudiakov, Aleksandr |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tarnovskaya, Svetlana |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Liu, Jiao |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sergushichev, Alexey |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kazakov, Sergey |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Frishman, Dmitrij |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Smolina, Natalia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pervunina, Tatiana |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jorholt, John |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sjoberg, Gunnar |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vershinina, Tatiana |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rudenko, Dmitriy |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Arner, Anders |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sejersen, Thomas |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lindstrand, Anna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kostareva, Anna |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human mutation |
| Related parts | vol. 39 |
| -- | no. 9 |
| -- | p. 1161-1172 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/humu.23559">https://doi.org/10.1002/humu.23559</a> |
| Public note | Available from publisher's website |
No items available.