Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. (Record no. 22256083)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02370 a2200733 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516121421.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201302s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1546-1718 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/ng.2454 |
| 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 | Lemmers, Richard J L F |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20130213 |
| 245 00 - TITLE STATEMENT | |
| Title | Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Nature genetics |
| Date of publication, distribution, etc. | Dec 2012 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1370-4 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| 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 | Aged |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosomal Proteins, Non-Histone |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosomes, Human, Pair 18 |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | CpG Islands |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Methylation |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Epigenesis, Genetic |
| 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 | Haplotypes |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Heredity |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Homeodomain Proteins |
| 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 | 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 | Muscular Dystrophy, Facioscapulohumeral |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tawil, Rabi |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Petek, Lisa M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Balog, Judit |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Block, Gregory J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Santen, Gijs W E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Amell, Amanda M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van der Vliet, Patrick J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Almomani, Rowida |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Straasheijm, Kirsten R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Krom, Yvonne D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Klooster, Rinse |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sun, Yu |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | den Dunnen, Johan T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Helmer, Quinta |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Donlin-Smith, Colleen M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Padberg, George W |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Engelen, Baziel G M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Greef, Jessica C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Aartsma-Rus, Annemieke M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Frants, Rune R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Visser, Marianne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Desnuelle, Claude |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sacconi, Sabrina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Filippova, Galina N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bakker, Bert |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bamshad, Michael J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tapscott, Stephen J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Miller, Daniel G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van der Maarel, Silvère M |
| 773 0# - HOST ITEM ENTRY | |
| Title | Nature genetics |
| Related parts | vol. 44 |
| -- | no. 12 |
| -- | p. 1370-4 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/ng.2454">https://doi.org/10.1038/ng.2454</a> |
| Public note | Available from publisher's website |
No items available.