Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness. (Record no. 27799952)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01928 a2200601 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517184859.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201807s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1750-1172 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1186/s13023-017-0722-1 |
| 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 | Johnson, Katherine |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20180720 |
| 245 00 - TITLE STATEMENT | |
| Title | Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Orphanet journal of rare diseases |
| Date of publication, distribution, etc. | 11 2017 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 173 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 | 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 | Aged |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Aged, 80 and over |
| 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 | Child, Preschool |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cohort Studies |
| 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 | Genetic Variation |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Glycogen Storage Disease Type II |
| 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 | Middle Aged |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Muscle Weakness |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Muscular Dystrophies, Limb-Girdle |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exome Sequencing |
| General subdivision | methods |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Young Adult |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | alpha-Glucosidases |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Töpf, Ana |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bertoli, Marta |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Phillips, Lauren |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Claeys, Kristl G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stojanovic, Vidosava Rakocevic |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Perić, Stojan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hahn, Andreas |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Maddison, Paul |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Akay, Ela |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bastian, Alexandra E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Łusakowska, Anna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kostera-Pruszczyk, Anna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lek, Monkol |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Xu, Liwen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | MacArthur, Daniel G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Straub, Volker |
| 773 0# - HOST ITEM ENTRY | |
| Title | Orphanet journal of rare diseases |
| Related parts | vol. 12 |
| -- | no. 1 |
| -- | p. 173 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1186/s13023-017-0722-1">https://doi.org/10.1186/s13023-017-0722-1</a> |
| Public note | Available from publisher's website |
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